Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).
Mutagenesis
; 32(6): 599-606, 2017 12 31.
Article
en En
| MEDLINE
| ID: mdl-29346610
ABSTRACT
Autosomal recessive woolly hair/hypotrichosis (ARWH/HT OMIM #278150/604379) is a rare hereditary hair disease characterized by tightly curled hair at birth which can lead to sparse hair later in life. The mutations in both LIPH and LPAR6/P2RY5 are responsible for autosomal recessive woolly hair with or without hypotrichosis (ARWH/HT). To conduct clinical and genetic investigations in four patients from three unrelated Chinese Han families with ARWH/HT, we performed mutation screening of LIPH and LPAR6/P2RY5 gene and identified four mutations in LIPH c.454G>A, c.614A>G, c.736T>A, c.742C>A. c.736T>A and c.742C>A mutations were reported in previous studies, and c.454G>A, c.614A>G were identified for the first time. We carried out functional studies of the two mutants with c.454G>A (p.Gly152Arg, G152R) or c.614A>G (p.His205Arg, H205R). Interestingly, both of them lead to secretion defects of LIPH, which are involved in the pathogenesis of ARWH/HT.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Predisposición Genética a la Enfermedad
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Pueblo Asiatico
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Genes Recesivos
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Cabello
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Enfermedades del Cabello
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Hipotricosis
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Lipasa
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Mutación
Límite:
Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Mutagenesis
Asunto de la revista:
GENETICA MEDICA
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SAUDE AMBIENTAL
Año:
2017
Tipo del documento:
Article
País de afiliación:
China