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|Title:||Split hand-foot malformation and a novel WNT10B mutation|
|Authors:||Piranit Nik Kantaputra|
James R. Ketudat Cairns
|Keywords:||Biochemistry, Genetics and Molecular Biology|
|Abstract:||© 2018 Elsevier Masson SAS We report an Indian girl with split-hand/foot malformation (SHFM), sparse hair, and interrupted eyebrows, who carries a novel homozygous deletion c.695_697delACA in WNT10B. The variant is deduced to cause an in-frame deletion of Asn residue 232 (p.Asn232del). According to the protein model, this single amino acid deletion at the critical position in the protein structure is likely to severely affect the protein structure and function. This deletion is likely to lead decreased lifetime and make it unable to bind to its receptors and other ligands. The patient and all family members had normal bone density and they were not obese like some of the patients with WNT10B variants. Here we report a patient with SHFM6 who carried a novel WNT10B mutation. Sparse hair and interrupted eyebrows may be associated findings of SHFM6.|
|Appears in Collections:||CMUL: Journal Articles|
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