Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation
Genet. mol. biol
; 41(1): 1-8, Jan.-Mar. 2018. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-892477
Biblioteca responsável:
BR26.1
ABSTRACT
Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1-q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p.Gln154*) in exon 4 of the WNT10B gene in two families (A and B). In the other two families (C and D), a previously reported variant (c.300_306dupAGGGCGG; p.Leu103Argfs*53) was detected. This study further expands the spectrum of the sequence variants reported in the WNT10B gene, which result in the split hand/foot malformation.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Idioma:
Inglês
Revista:
Genet. mol. biol
Assunto da revista:
Genética
Ano de publicação:
2018
Tipo de documento:
Artigo
País de afiliação:
Paquistão
Instituição/País de afiliação:
Quaid-i-Azam University/PK