In:
Molecular Syndromology, S. Karger AG, Vol. 9, No. 6 ( 2018), p. 319-323
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 〈 i 〉 MED25 〈 /i 〉 (p.Ile173Thr) and 〈 i 〉 COQ8A 〈 /i 〉 (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.
Type of Medium:
Online Resource
ISSN:
1661-8769
,
1661-8777
Language:
English
Publisher:
S. Karger AG
Publication Date:
2018
detail.hit.zdb_id:
2546218-0
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