Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation
AUTOR(ES)
Ullah, Asmat, Gul, Ajab, Umair, Muhammad, Irfanullah, , Ahmad, Farooq, Aziz, Abdul, Wali, Abdul, Ahmad, Wasim
FONTE
Genet. Mol. Biol.
DATA DE PUBLICAÇÃO
22/01/2018
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.
Documentos Relacionados
- Bilateral split hand/foot malformation and inv(7)(p22q21.3).
- An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.
- Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.
- Is there an autosomal recessive form of the split hand and split foot malformation?
- SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast