Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation
Document Type
Article
Department
Pathology and Laboratory Medicine
Abstract
Introduction: Split hand and foot malformation (SHFM) or ectrodactyly is a rare limb deformity characterized by median cleft of the hand and foot with impaired or missing central rays. It can occur as an isolated anomaly or in association with abnormalities of other body parts.
Methods: After delineating the clinical features of two families (A-B), with non-syndromic SHFM, exome and Sanger sequencing were employed to search for the disease-causing variants.
Results: Analysis of exome and Sanger sequencing data revealed two causative variants in the WNT10B gene in affected members of the two families. This included a novel missense change [c.338G>C; p.(Gly113Ala)] in family A and a previously reported frameshift variant [c.884-896delTCCAGCCCCGTCT; p.(Phe295Cysfs*87)] in family B.
Conclusion: Our findings add a novel variant in WNT10B gene as the underlying cause of SHFM. The finding adds to the growing body of knowledge about the genetic basis of developmental disorders and provides valuable insights into the molecular mechanisms that regulate limb development.
Publication (Name of Journal)
Molecular Syndromology
DOI
https://karger.com/msy/article/doi/10.1159/000531069/853161/Sequence-Variants-in-the-WNT10B-Underlying-Non
Recommended Citation
Bilal, M.,
Ahmad, W.,
Ahmad, I.,
Haack, T. B.,
Buchert, R.,
Peralta, S.,
Abbasi, S.
(2023). Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation. Molecular Syndromology, 14(06).
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_pathol_microbiol/1492
Comments
Pagination are not provided by the author/publisher.