Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
Am J Med Genet A
; 173(5): 1348-1352, 2017 May.
Article
em En
| MEDLINE
| ID: mdl-28322498
ABSTRACT
Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations in this gene are also associated with the more severe complex III deficiency and GRACILE syndrome. We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L. A thorough clinical evaluation did not reveal any features consistent with complex III deficiency or GRACILE syndrome.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Complexo III da Cadeia de Transporte de Elétrons
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Doenças Mitocondriais
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Doenças do Cabelo
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Perda Auditiva Neurossensorial
Limite:
Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article