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Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation

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Resumo: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.
Autores principais:Ullah,Asmat
Outros Autores:Gul,Ajab; Umair,Muhammad; Irfanullah,; Ahmad,Farooq; Aziz,Abdul; Wali,Abdul; Ahmad,Wasim
Assunto:Split-Hand-Foot Malformation 6 WNT10B gene sequence variants
Ano:2018
País:Brasil
Tipo de documento:artigo
Tipo de acesso:acesso aberto
Instituição associada:IBICT
Idioma:inglês
Origem:Oasisbr

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