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Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

Permanent lenke
https://hdl.handle.net/10037/25172
DOI
https://doi.org/10.1038/gim.2014.157
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article.pdf (401.2Kb)
Publisert versjon (PDF)
Dato
2014-11-06
Type
Journal article
Tidsskriftartikkel
Peer reviewed

Forfatter
Shepard, PJ; Barshop, BA; Baumgartner, MR; Jepsen, K; Hansen, John-Bjarne; Smith, EN; Frazer, Kelly
Sammendrag
Purpose: 3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay, failure to thrive, hemiparesis, muscular hypotonia, and multiple sclerosis. Implementation of newborn screening for MCCD has resulted in broadening the range of phenotypic expression to include asymptomatic adults. The purpose of this study was to identify factors underlying the varying phenotypes of MCCD.

Methods: We performed exome sequencing on DNA from 33 cases and 108 healthy controls. We examined these data for associations between either MCC mutational status, genetic ancestry, or consanguinity and the absence or presence/specificity of clinical symptoms in MCCD cases.

Results: We determined that individuals with nonspecific clinical phenotypes are highly inbred compared with cases that are asymptomatic and healthy controls. For 5 of these 10 individuals, we discovered a homozygous damaging mutation in a disease gene that is likely to underlie their nonspecific clinical phenotypes previously attributed to MCCD.

Conclusion: Our study shows that nonspecific phenotypes attributed to MCCD are associated with consanguinity and are likely not due to mutations in the MCC enzyme but result from rare homozygous mutations in other disease genes.

Forlag
Elsevier
Sitering
Shepard, Barshop, Baumgartner, Jepsen, Hansen JB, Smith E, Frazer K. Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genetics in Medicine. 2015;17(8):660-667
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  • Artikler, rapporter og annet (klinisk medisin) [1974]
Copyright 2015 The Author(s)

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