Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

Kristin K. Deeb, Jirair K. Bedoyan, Raymond Wang, Leighann Sremba, Molly C. Schroeder, George J. Grahame, Monica Boyer, Shawn E. McCandless, Douglas S. Kerr, Shulin Zhang

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Pyruvate dehydrogenase complex (PDC) deficiencies are mostly due to mutations in the X-linked PDHA1 gene. Males with hemizygous PDHA1 mutations are clinically more severely affected, while those with mosaic PDHA1 mutations may manifest milder phenotypes. We report a patient harboring a novel, mosaic missense PDHA1 mutation, c.523G > A (p.A175T), with a severe clinical presentation of congenital microcephaly, significant brain abnormalities, persistent seizures, profound developmental delay, and failure to thrive. We review published cases of PDHA1 mosaicism.

Original languageEnglish
Pages (from-to)362-367
Number of pages6
JournalMolecular Genetics and Metabolism Reports
Volume1
Issue number1
DOIs
StatePublished - 2014

Keywords

  • Mosaicism
  • Mutation analysis
  • PDHA1 gene
  • PDHc Deficiency

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