COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?-Reference-Cited by-同舟云学术

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

Published:2018 Issue:6 Volume:9 Page:319-323
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Nair Pratibha,Lama Maher,El-Hayek Stephany,Abou Sleymane Gretta,Stora Samantha,Obeid Marc,Al-Ali Mahmoud T.,Delague Valérie,Mégarbané André

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

Reference11 articles.

1. Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, et al: Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. Hum Genet 134:577-587 (2015).

2. Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, et al: Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. J Med Genet 52:123-127 (2015).

3. Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, et al: ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 82:661-672 (2008).

4. Leal A, Huehne K, Bauer F, Sticht H, Berger P, et al: Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics 10:375-376 (2009).

5. Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA: Clan genomics and the complex architecture of human disease. Cell 147:32-43 (2011).

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