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

Curtis R. Coughlin; Ian D. Krantz; Eric S. Schmitt; Shulin Zhang; Lee Jun C. Wong; Douglas S. Kerr; Jaya Ganesh

doi:10.1016/j.ymgme.2010.04.004

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

Curtis R. Coughlin
, Ian D. Krantz
, Eric S. Schmitt
, Shulin Zhang
, Lee Jun C. Wong
, Douglas S. Kerr
, Jaya Ganesh

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

12 Scopus citations

Abstract

Pyruvate dehydrogenase complex deficiency is a clinically heterogeneous disorder. Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1α subunit of the multienzyme complex. Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more severely affected. We report a case of PDHA1 mosaicism in a male patient who had a milder phenotype.

Original language	English
Pages (from-to)	296-299
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	100
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2010.04.004
State	Published - Jul 2010

Keywords

Lactic acidosis
Mosaicism
PDHA1
Pyruvate dehydrogenase complex deficiency

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ymgme.2010.04.004

Cite this

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

abstract = "Pyruvate dehydrogenase complex deficiency is a clinically heterogeneous disorder. Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1α subunit of the multienzyme complex. Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more severely affected. We report a case of PDHA1 mosaicism in a male patient who had a milder phenotype.",

keywords = "Lactic acidosis, Mosaicism, PDHA1, Pyruvate dehydrogenase complex deficiency",

author = "Coughlin, \{Curtis R.\} and Krantz, \{Ian D.\} and Schmitt, \{Eric S.\} and Shulin Zhang and Wong, \{Lee Jun C.\} and Kerr, \{Douglas S.\} and Jaya Ganesh",

year = "2010",

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doi = "10.1016/j.ymgme.2010.04.004",

language = "English",

volume = "100",

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TY - JOUR

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

AU - Coughlin, Curtis R.

AU - Krantz, Ian D.

AU - Schmitt, Eric S.

AU - Zhang, Shulin

AU - Wong, Lee Jun C.

AU - Kerr, Douglas S.

AU - Ganesh, Jaya

PY - 2010/7

Y1 - 2010/7

N2 - Pyruvate dehydrogenase complex deficiency is a clinically heterogeneous disorder. Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1α subunit of the multienzyme complex. Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more severely affected. We report a case of PDHA1 mosaicism in a male patient who had a milder phenotype.

AB - Pyruvate dehydrogenase complex deficiency is a clinically heterogeneous disorder. Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1α subunit of the multienzyme complex. Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more severely affected. We report a case of PDHA1 mosaicism in a male patient who had a milder phenotype.

KW - Lactic acidosis

KW - Mosaicism

KW - PDHA1

KW - Pyruvate dehydrogenase complex deficiency

UR - https://www.scopus.com/pages/publications/77953028581

UR - https://www.scopus.com/pages/publications/77953028581#tab=citedBy

U2 - 10.1016/j.ymgme.2010.04.004

DO - 10.1016/j.ymgme.2010.04.004

M3 - Article

C2 - 20462777

AN - SCOPUS:77953028581

SN - 1096-7192

VL - 100

SP - 296

EP - 299

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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