Identification of a novel 14q13.3 deletion involving the SLC25A21 gene associated with familial synpolydactyly

K. Meyertholen, J. B. Ravnan, R. Matalon

Research output: Contribution to journalArticle

4 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)25-29
Number of pages5
JournalMolecular Syndromology
Volume3
Issue number1
DOIs
StatePublished - Jun 2012

Keywords

  • 2-Oxoadipate academia
  • Chromosome 14
  • MIPOL1
  • Microarray
  • PAX9
  • Polydactyly
  • SLC25A21
  • Syndactyly
  • Synpolydactyly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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