Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0036572 (
seizures
)
80,221
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Two male siblings ages 15 and 10 yr old had similar features of intellectual disability, developmental delay, severe speech impairment, microcephaly, prematurity, and transient elevation of liver enzymes in infancy. Exome sequencing revealed one novel (c.65C>A; p.Ala22Asp) and one ultra-rare (c.3214T>C; p.Phe1072Leu) predicted damaging missense variant in
trans
in the gene encoding cytoplasmic
valyl-tRNA synthetase
(
VARS
). Biallelic variants in
VARS
have previously been associated with a neurodevelopmental disorder characterized by microcephaly,
seizures
, and cortical atrophy (NDMSCA; MIM #617802). Although our patients have no history of
seizures
or cortical atrophy, we suggest that the biallelic variants in
VARS
p.Ala22Asp and p.Phe1072Leu in this family are likely pathogenic and associated with NDMSCA, expanding the clinical phenotype of the condition.
...
PMID:Biallelic variants in
VARS
in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature. 3027 4
