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