A novel c.973G<T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family

Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy wit...
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Autor*in:	Karimzadeh P [verfasserIn] Parvizi Omran S [verfasserIn] Ghaedi H [verfasserIn] Omrani MD [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	congenial myasthenic syndrome (cms) neuromuscular junction chrne gene

Übergeordnetes Werk:	In: Balkan Journal of Medical Genetics - Sciendo, 2008, 22(2019), 1, Seite 95-98
Übergeordnetes Werk:	volume:22 ; year:2019 ; number:1 ; pages:95-98

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.2478/bjmg-2019-0010

Katalog-ID:	DOAJ033317038

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allfields	10.2478/bjmg-2019-0010 doi (DE-627)DOAJ033317038 (DE-599)DOAJ1bcbd0649ae746359716ae68ee1369a6 DE-627 ger DE-627 rakwb eng QH426-470 Karimzadeh P verfasserin aut A novel c.973G<T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Clinical courses, electrophysiological studies and molecular genetic analysis were assessed. Polymerase chain reaction (PCR) and direct DNA sequencing of the CHRNE gene were performed for the proband and all the family members. A novel homozygous missense mutation of c.973G<T was found in the CHRNE gene. Segregation studies were suggested to be the genetic cause of the disease. Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973G<T was likely pathogenic. Our results recommended first screening of the CHRNE gene for pathogenic mutations in Iranian origin. congenial myasthenic syndrome (cms) neuromuscular junction chrne gene Genetics Parvizi Omran S verfasserin aut Ghaedi H verfasserin aut Omrani MD verfasserin aut In Balkan Journal of Medical Genetics Sciendo, 2008 22(2019), 1, Seite 95-98 (DE-627)556296079 (DE-600)2402171-4 13110160 nnns volume:22 year:2019 number:1 pages:95-98 https://doi.org/10.2478/bjmg-2019-0010 kostenfrei https://doaj.org/article/1bcbd0649ae746359716ae68ee1369a6 kostenfrei https://doi.org/10.2478/bjmg-2019-0010 kostenfrei https://doaj.org/toc/1311-0160 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2019 1 95-98
spelling	10.2478/bjmg-2019-0010 doi (DE-627)DOAJ033317038 (DE-599)DOAJ1bcbd0649ae746359716ae68ee1369a6 DE-627 ger DE-627 rakwb eng QH426-470 Karimzadeh P verfasserin aut A novel c.973G<T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Clinical courses, electrophysiological studies and molecular genetic analysis were assessed. Polymerase chain reaction (PCR) and direct DNA sequencing of the CHRNE gene were performed for the proband and all the family members. A novel homozygous missense mutation of c.973G<T was found in the CHRNE gene. Segregation studies were suggested to be the genetic cause of the disease. Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973G<T was likely pathogenic. Our results recommended first screening of the CHRNE gene for pathogenic mutations in Iranian origin. congenial myasthenic syndrome (cms) neuromuscular junction chrne gene Genetics Parvizi Omran S verfasserin aut Ghaedi H verfasserin aut Omrani MD verfasserin aut In Balkan Journal of Medical Genetics Sciendo, 2008 22(2019), 1, Seite 95-98 (DE-627)556296079 (DE-600)2402171-4 13110160 nnns volume:22 year:2019 number:1 pages:95-98 https://doi.org/10.2478/bjmg-2019-0010 kostenfrei https://doaj.org/article/1bcbd0649ae746359716ae68ee1369a6 kostenfrei https://doi.org/10.2478/bjmg-2019-0010 kostenfrei https://doaj.org/toc/1311-0160 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2019 1 95-98
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allfieldsSound	10.2478/bjmg-2019-0010 doi (DE-627)DOAJ033317038 (DE-599)DOAJ1bcbd0649ae746359716ae68ee1369a6 DE-627 ger DE-627 rakwb eng QH426-470 Karimzadeh P verfasserin aut A novel c.973G<T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Clinical courses, electrophysiological studies and molecular genetic analysis were assessed. Polymerase chain reaction (PCR) and direct DNA sequencing of the CHRNE gene were performed for the proband and all the family members. A novel homozygous missense mutation of c.973G<T was found in the CHRNE gene. Segregation studies were suggested to be the genetic cause of the disease. Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973G<T was likely pathogenic. Our results recommended first screening of the CHRNE gene for pathogenic mutations in Iranian origin. congenial myasthenic syndrome (cms) neuromuscular junction chrne gene Genetics Parvizi Omran S verfasserin aut Ghaedi H verfasserin aut Omrani MD verfasserin aut In Balkan Journal of Medical Genetics Sciendo, 2008 22(2019), 1, Seite 95-98 (DE-627)556296079 (DE-600)2402171-4 13110160 nnns volume:22 year:2019 number:1 pages:95-98 https://doi.org/10.2478/bjmg-2019-0010 kostenfrei https://doaj.org/article/1bcbd0649ae746359716ae68ee1369a6 kostenfrei https://doi.org/10.2478/bjmg-2019-0010 kostenfrei https://doaj.org/toc/1311-0160 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2019 1 95-98
language	English
source	In Balkan Journal of Medical Genetics 22(2019), 1, Seite 95-98 volume:22 year:2019 number:1 pages:95-98
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institution	findex.gbv.de
topic_facet	congenial myasthenic syndrome (cms) neuromuscular junction chrne gene Genetics
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container_title	Balkan Journal of Medical Genetics
authorswithroles_txt_mv	Karimzadeh P @@aut@@ Parvizi Omran S @@aut@@ Ghaedi H @@aut@@ Omrani MD @@aut@@
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callnumber-first	Q - Science
author	Karimzadeh P
spellingShingle	Karimzadeh P misc QH426-470 misc congenial myasthenic syndrome (cms) misc neuromuscular junction misc chrne gene misc Genetics A novel c.973G<T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family
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topic_title	QH426-470 A novel c.973G<T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family congenial myasthenic syndrome (cms) neuromuscular junction chrne gene
topic	misc QH426-470 misc congenial myasthenic syndrome (cms) misc neuromuscular junction misc chrne gene misc Genetics
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title	A novel c.973G<T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family
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title_full	A novel c.973G<T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family
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title_sort	novel c.973g<t mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family
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title_auth	A novel c.973G<T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family
abstract	Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Clinical courses, electrophysiological studies and molecular genetic analysis were assessed. Polymerase chain reaction (PCR) and direct DNA sequencing of the CHRNE gene were performed for the proband and all the family members. A novel homozygous missense mutation of c.973G<T was found in the CHRNE gene. Segregation studies were suggested to be the genetic cause of the disease. Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973G<T was likely pathogenic. Our results recommended first screening of the CHRNE gene for pathogenic mutations in Iranian origin.
abstractGer	Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Clinical courses, electrophysiological studies and molecular genetic analysis were assessed. Polymerase chain reaction (PCR) and direct DNA sequencing of the CHRNE gene were performed for the proband and all the family members. A novel homozygous missense mutation of c.973G<T was found in the CHRNE gene. Segregation studies were suggested to be the genetic cause of the disease. Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973G<T was likely pathogenic. Our results recommended first screening of the CHRNE gene for pathogenic mutations in Iranian origin.
abstract_unstemmed	Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Clinical courses, electrophysiological studies and molecular genetic analysis were assessed. Polymerase chain reaction (PCR) and direct DNA sequencing of the CHRNE gene were performed for the proband and all the family members. A novel homozygous missense mutation of c.973G<T was found in the CHRNE gene. Segregation studies were suggested to be the genetic cause of the disease. Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973G<T was likely pathogenic. Our results recommended first screening of the CHRNE gene for pathogenic mutations in Iranian origin.
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title_short	A novel c.973G<T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family
url	https://doi.org/10.2478/bjmg-2019-0010 https://doaj.org/article/1bcbd0649ae746359716ae68ee1369a6 https://doaj.org/toc/1311-0160
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A novel c.973G<T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family

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