Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
Genet Couns
; 20(1): 1-8, 2009.
Article
en En
| MEDLINE
| ID: mdl-19400537
Monilethrix, a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis, is caused by mutations in three type II hair cortex keratins. The human keratin family comprises 54 members, 28 type I and 26 type II. The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. In our study, Monilethrix was diagnosed on the basis of clinical characteristics and microscopic examination in a family with 11 affected members. Haplotype analysis was performed by three Simple Tandem Repeat markers (STR) and KRT86 gene was sequenced for the identification of the disease causing mutation. In the results of this, autosomal dominant mutation (E402K) in exon 7 of KRT86 gene was identified as a cause of Moniltherix in the large family from Turkey.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Queratinas Específicas del Pelo
/
Queratinas Tipo II
/
Enfermedades del Cabello
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Genet Couns
Asunto de la revista:
ETICA
/
GENETICA MEDICA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Turquía
Pais de publicación:
Suiza