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

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 skew...

Full description

Saved in:
Bibliographic Details
Published in:Molecular genetics and metabolism 2010-07, Vol.100 (3), p.296-299
Main Authors: Coughlin, Curtis R., Krantz, Ian D., Schmitt, Eric S., Zhang, Shulin, Wong, Lee-Jun C., Kerr, Douglas S., Ganesh, Jaya
Format: Article
Language:English
Subjects:
Amino Acid Substitution
Base Sequence
Child, Preschool
Chromosomes, Human, X - genetics
DNA Mutational Analysis
Female
Humans
Lactic acidosis
Male
Mosaicism
Mutation, Missense
PDHA1
Phenotype
Pyruvate Dehydrogenase (Lipoamide) - deficiency
Pyruvate Dehydrogenase (Lipoamide) - genetics
Pyruvate dehydrogenase complex deficiency
Pyruvate Dehydrogenase Complex Deficiency Disease - enzymology
Pyruvate Dehydrogenase Complex Deficiency Disease - genetics
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2010.04.004