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Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.

Muhammad Bilal1,2,3, Tobias B Haack3, Rebecca Buchert3

  • 1Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Molecular Syndromology
|December 7, 2023
PubMed
Summary

Genetic variants in the WNT10B gene cause Split Hand and Foot Malformation (SHFM), a rare limb defect. This study identified a novel WNT10B variant contributing to SHFM in two families.

Keywords:
Limb anomalySequence variantsSplit hand and foot malformationWNT10B

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Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Split Hand and Foot Malformation (SHFM), also known as ectrodactyly, is a rare limb malformation.
  • SHFM is characterized by median clefts in the hands and feet due to impaired or absent central ray development.
  • It can manifest as an isolated condition or alongside other developmental abnormalities.

Purpose of the Study:

  • To identify the genetic cause of non-syndromic SHFM in two families.
  • To investigate the role of WNT10B gene variants in limb development disorders.

Main Methods:

  • Clinical phenotyping of two families with non-syndromic SHFM.
  • Whole exome sequencing and Sanger sequencing to detect causative genetic variants.

Main Results:

  • Two pathogenic variants in the WNT10B gene were identified in affected individuals from both families.
  • A novel missense variant (c.338G>C; p.(Gly113Ala)) was found in Family A.
  • A previously reported frameshift variant (c.884-896delTCCAGCCCCGTCT; p.(Phe295Cysfs*87)) was identified in Family B.

Conclusions:

  • The study identifies a novel WNT10B variant as a cause of SHFM.
  • These findings expand the understanding of the genetic basis of SHFM and limb development.
  • The results offer insights into the molecular mechanisms underlying limb malformations.