COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

Molecular Syndromology
Pratibha NairA Mégarbané

Abstract

We report on a girl, born to first-cousin Lebanese parents, with severe intellectual disability, congenital hip luxation, cardiac malformation, short stature, facial dysmorphic features including microcephaly, sparse hair, bilateral epicanthal folds, ataxia, seizures, and elevated lactate and pyruvate levels in serum. Whole exome sequencing was carried out on the patient's DNA. Potentially causal homozygous variants in the MED25 (p.Ile173Thr) and COQ8A (p.Arg512Trp) genes were found. The potential pathogenicity of these variants, and the possibility that the 2 variants could synergistically act to produce the phenotype reported, is discussed.

References

Mar 6, 2008·American Journal of Human Genetics·Clotilde Lagier-TourenneMichel Koenig
Oct 4, 2011·Cell·James R LupskiRichard A Gibbs
Jan 13, 2015·Journal of Medical Genetics·Maria Antonietta MencarelliAlessandra Renieri
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Mar 21, 2015·Human Genetics·Lina Basel-VanagaiteDoron M Behar

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Citations

Apr 24, 2020·American Journal of Medical Genetics. Part a·Devon HaynesYves Lacassie

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