How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
Am J Med Genet A
; 176(1): 151-155, 2018 01.
Article
em En
| MEDLINE
| ID: mdl-29130637
ABSTRACT
A congenital myasthenia was suspected in two unrelated children with very similar phenotypes including several episodes of severe dyspnea. Both children had a 10q11.2 deletion revealed by Single Nucleotide Polymorphisms array or by Next Generation Sequencing analysis. The deletion was inherited from the healthy mother in the first case. These deletions unmasked a recessive mutation at the same locus in both cases, but in two different genes CHAT and SLC18A3.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Cromossomos Humanos Par 10
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Colina O-Acetiltransferase
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Deleção Cromossômica
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Síndromes Miastênicas Congênitas
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Proteínas Vesiculares de Transporte de Acetilcolina
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Genes Recessivos
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Mutação
Tipo de estudo:
Prognostic_studies
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Risk_factors_studies
Limite:
Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article