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

doi:10.1016/j.ymgmr.2014.08.001

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 journal › Article › peer-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 language	English
Pages (from-to)	362-367
Number of pages	6
Journal	Molecular Genetics and Metabolism Reports
Volume	1
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgmr.2014.08.001
State	Published - 2014

Keywords

Mosaicism
Mutation analysis
PDHA1 gene
PDHc Deficiency

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10.1016/j.ymgmr.2014.08.001

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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. In: Molecular Genetics and Metabolism Reports. 2014 ; Vol. 1, No. 1. pp. 362-367.

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title = "Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency",

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.",

keywords = "Mosaicism, Mutation analysis, PDHA1 gene, PDHc Deficiency",

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

year = "2014",

doi = "10.1016/j.ymgmr.2014.08.001",

language = "English",

volume = "1",

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journal = "Molecular Genetics and Metabolism Reports",

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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.

In: Molecular Genetics and Metabolism Reports, Vol. 1, No. 1, 2014, p. 362-367.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

AU - Deeb, Kristin K.

AU - Bedoyan, Jirair K.

AU - Wang, Raymond

AU - Sremba, Leighann

AU - Schroeder, Molly C.

AU - Grahame, George J.

AU - Boyer, Monica

AU - McCandless, Shawn E.

AU - Kerr, Douglas S.

AU - Zhang, Shulin

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - Mosaicism

KW - Mutation analysis

KW - PDHA1 gene

KW - PDHc Deficiency

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DO - 10.1016/j.ymgmr.2014.08.001

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VL - 1

SP - 362

EP - 367

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

SN - 2214-4269

IS - 1

ER -

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

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Keywords

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