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Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.
| Content Provider | Europe PMC |
|---|---|
| Author | Bilal, Muhammad Haack, Tobias B. Buchert, Rebecca Peralta, Susana Ahmad, Imtiaz Abbasi, Sanaullah Ahmad, Wasim Faisal |
| Copyright Year | 2023 |
| Abstract | AbstractIntroductionSplit 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.MethodsAfter 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.ResultsAnalysis 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.ConclusionOur 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. |
| Related Links | https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC10697732&blobtype=pdf |
| Page Count | 8 |
| ISSN | 16618769 |
| Volume Number | 14 |
| DOI | 10.1159/000531069 |
| PubMed Central reference number | PMC10697732 |
| Issue Number | 6 |
| PubMed reference number | 38058757 |
| Journal | Molecular Syndromology [Mol Syndromol] |
| e-ISSN | 16618777 |
| Language | English |
| Publisher | Karger Publishers |
| Publisher Date | 2023-06-20 |
| Publisher Place | Basel, Switzerland |
| Access Restriction | Open |
| Rights License | Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. © 2023 S. Karger AG, Basel |
| Subject Keyword | Split hand and foot malformation Limb anomaly WNT10B Sequence variants |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
