Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly

Molecular Syndromology
K MeyertholenR Matalon

Abstract

Synpolydactyly is a relatively rare malformation. Recently, we came across a male infant with a familial synpolydactyly of the hands and feet. As most familial synpolydactyly syndromes have not been linked to any specific mutations, we felt further investigation was warranted. Using microarray and fluorescent in situ hybridization analysis, we identified a novel mutation of the SLC25A21 gene on chromosome 14.

Citations

Feb 16, 2019·Frontiers in Cell and Developmental Biology·Oluwaseun B Ogunbona, Steven M Claypool
May 6, 2016·American Journal of Medical Genetics. Part a·Mattia GentileNicola Laforgia
Mar 9, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Veronika BoczonadiRita Horvath
Nov 20, 2020·Brain : a Journal of Neurology·Danique Beijer, Jonathan Baets

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