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

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...

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Autores principales: Deeb, Kristin K., Bedoyan, Jirair K., Wang, Raymond, Sremba, Leighann, Schroeder, Molly C., Grahame, George J., Boyer, Monica, McCandless, Shawn E., Kerr, Douglas S., Zhang, Shulin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121365/
https://www.ncbi.nlm.nih.gov/pubmed/27896109
http://dx.doi.org/10.1016/j.ymgmr.2014.08.001
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author Deeb, Kristin K.
Bedoyan, Jirair K.
Wang, Raymond
Sremba, Leighann
Schroeder, Molly C.
Grahame, George J.
Boyer, Monica
McCandless, Shawn E.
Kerr, Douglas S.
Zhang, Shulin
author_facet Deeb, Kristin K.
Bedoyan, Jirair K.
Wang, Raymond
Sremba, Leighann
Schroeder, Molly C.
Grahame, George J.
Boyer, Monica
McCandless, Shawn E.
Kerr, Douglas S.
Zhang, Shulin
author_sort Deeb, Kristin K.
collection PubMed
description 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.
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spelling pubmed-51213652016-11-28 Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency Deeb, Kristin K. Bedoyan, Jirair K. Wang, Raymond Sremba, Leighann Schroeder, Molly C. Grahame, George J. Boyer, Monica McCandless, Shawn E. Kerr, Douglas S. Zhang, Shulin Mol Genet Metab Rep Case Report 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. Elsevier 2014-08-28 /pmc/articles/PMC5121365/ /pubmed/27896109 http://dx.doi.org/10.1016/j.ymgmr.2014.08.001 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle Case Report
Deeb, Kristin K.
Bedoyan, Jirair K.
Wang, Raymond
Sremba, Leighann
Schroeder, Molly C.
Grahame, George J.
Boyer, Monica
McCandless, Shawn E.
Kerr, Douglas S.
Zhang, Shulin
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
title Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
title_full Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
title_fullStr Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
title_full_unstemmed Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
title_short Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
title_sort somatic mosaicism for a novel pdha1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121365/
https://www.ncbi.nlm.nih.gov/pubmed/27896109
http://dx.doi.org/10.1016/j.ymgmr.2014.08.001
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