Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation
Genet. mol. biol
;
41(1): 1-8, Jan.-Mar. 2018. tab, graf
Article
in English
| LILACS
| ID: biblio-892477
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.
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Index:
LILACS (Americas)
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2018
Type:
Article
Affiliation country:
Pakistan
Institution/Affiliation country:
Quaid-i-Azam University/PK
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