Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome
Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian fam...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Shaw, Marie [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2015transfer abstract |
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| Schlagwörter: |
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| Umfang: |
5 |
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| Übergeordnetes Werk: |
Enthalten in: Edge minimization in de Bruijn graphs - Baier, Uwe ELSEVIER, 2021, New York, NY [u.a.] |
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| Übergeordnetes Werk: |
volume:58 ; year:2015 ; number:6 ; pages:364-368 ; extent:5 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.ejmg.2015.04.004 |
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| 520 | |a Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. | ||
| 520 | |a Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. | ||
| 650 | 7 | |a Massively parallel sequencing |2 Elsevier | |
| 650 | 7 | |a X-chromosome exome |2 Elsevier | |
| 650 | 7 | |a L1CAM |2 Elsevier | |
| 650 | 7 | |a X-linked intellectual disability |2 Elsevier | |
| 650 | 7 | |a Identical by descent |2 Elsevier | |
| 700 | 1 | |a Yap, Tzu Ying |4 oth | |
| 700 | 1 | |a Henden, Lyndal |4 oth | |
| 700 | 1 | |a Bahlo, Melanie |4 oth | |
| 700 | 1 | |a Gardner, Alison |4 oth | |
| 700 | 1 | |a Kalscheuer, Vera M. |4 oth | |
| 700 | 1 | |a Haan, Eric |4 oth | |
| 700 | 1 | |a Christie, Louise |4 oth | |
| 700 | 1 | |a Hackett, Anna |4 oth | |
| 700 | 1 | |a Gecz, Jozef |4 oth | |
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10.1016/j.ejmg.2015.04.004 doi GBVA2015009000012.pica (DE-627)ELV01848915X (ELSEVIER)S1769-7212(15)00077-4 DE-627 ger DE-627 rakwb eng 570 570 DE-600 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Shaw, Marie verfasserin aut Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome 2015transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. Massively parallel sequencing Elsevier X-chromosome exome Elsevier L1CAM Elsevier X-linked intellectual disability Elsevier Identical by descent Elsevier Yap, Tzu Ying oth Henden, Lyndal oth Bahlo, Melanie oth Gardner, Alison oth Kalscheuer, Vera M. oth Haan, Eric oth Christie, Louise oth Hackett, Anna oth Gecz, Jozef oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:58 year:2015 number:6 pages:364-368 extent:5 https://doi.org/10.1016/j.ejmg.2015.04.004 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 58 2015 6 364-368 5 045F 570 |
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10.1016/j.ejmg.2015.04.004 doi GBVA2015009000012.pica (DE-627)ELV01848915X (ELSEVIER)S1769-7212(15)00077-4 DE-627 ger DE-627 rakwb eng 570 570 DE-600 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Shaw, Marie verfasserin aut Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome 2015transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. Massively parallel sequencing Elsevier X-chromosome exome Elsevier L1CAM Elsevier X-linked intellectual disability Elsevier Identical by descent Elsevier Yap, Tzu Ying oth Henden, Lyndal oth Bahlo, Melanie oth Gardner, Alison oth Kalscheuer, Vera M. oth Haan, Eric oth Christie, Louise oth Hackett, Anna oth Gecz, Jozef oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:58 year:2015 number:6 pages:364-368 extent:5 https://doi.org/10.1016/j.ejmg.2015.04.004 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 58 2015 6 364-368 5 045F 570 |
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10.1016/j.ejmg.2015.04.004 doi GBVA2015009000012.pica (DE-627)ELV01848915X (ELSEVIER)S1769-7212(15)00077-4 DE-627 ger DE-627 rakwb eng 570 570 DE-600 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Shaw, Marie verfasserin aut Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome 2015transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. Massively parallel sequencing Elsevier X-chromosome exome Elsevier L1CAM Elsevier X-linked intellectual disability Elsevier Identical by descent Elsevier Yap, Tzu Ying oth Henden, Lyndal oth Bahlo, Melanie oth Gardner, Alison oth Kalscheuer, Vera M. oth Haan, Eric oth Christie, Louise oth Hackett, Anna oth Gecz, Jozef oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:58 year:2015 number:6 pages:364-368 extent:5 https://doi.org/10.1016/j.ejmg.2015.04.004 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 58 2015 6 364-368 5 045F 570 |
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10.1016/j.ejmg.2015.04.004 doi GBVA2015009000012.pica (DE-627)ELV01848915X (ELSEVIER)S1769-7212(15)00077-4 DE-627 ger DE-627 rakwb eng 570 570 DE-600 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Shaw, Marie verfasserin aut Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome 2015transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. Massively parallel sequencing Elsevier X-chromosome exome Elsevier L1CAM Elsevier X-linked intellectual disability Elsevier Identical by descent Elsevier Yap, Tzu Ying oth Henden, Lyndal oth Bahlo, Melanie oth Gardner, Alison oth Kalscheuer, Vera M. oth Haan, Eric oth Christie, Louise oth Hackett, Anna oth Gecz, Jozef oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:58 year:2015 number:6 pages:364-368 extent:5 https://doi.org/10.1016/j.ejmg.2015.04.004 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 58 2015 6 364-368 5 045F 570 |
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10.1016/j.ejmg.2015.04.004 doi GBVA2015009000012.pica (DE-627)ELV01848915X (ELSEVIER)S1769-7212(15)00077-4 DE-627 ger DE-627 rakwb eng 570 570 DE-600 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Shaw, Marie verfasserin aut Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome 2015transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. Massively parallel sequencing Elsevier X-chromosome exome Elsevier L1CAM Elsevier X-linked intellectual disability Elsevier Identical by descent Elsevier Yap, Tzu Ying oth Henden, Lyndal oth Bahlo, Melanie oth Gardner, Alison oth Kalscheuer, Vera M. oth Haan, Eric oth Christie, Louise oth Hackett, Anna oth Gecz, Jozef oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:58 year:2015 number:6 pages:364-368 extent:5 https://doi.org/10.1016/j.ejmg.2015.04.004 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 58 2015 6 364-368 5 045F 570 |
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identical by descent l1cam mutation in two apparently unrelated families with intellectual disability without l1 syndrome |
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Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome |
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Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. |
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Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. |
| abstract_unstemmed |
Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that the L1CAM (NM_000425.3, c.604G > A, p.D202N) variant is pathogenic. This report also demonstrates the usefulness of additional information, which can be extracted from exome sequencing data. |
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