ADAT3-related intellectual disability: Further delineation of the phenotype.
PMID 26842963 | DOI 10.1002/ajmg.a.37578 · American journal of medical genetics. Part A · 2016
ADAT3-related intellectual disability has been recently described in 24 individuals from eight Saudi families who had cognitive impairment and strabismus. Other common features included growth failure, microcephaly, tone abnormalities, epilepsy, and nonspecific brain abnormalities. A single homozygous founder mutation (c.382G>A:p.(V128M)) in the ADAT3 gene, which encodes a protein that functions in tRNA editing, was identified in all affected individuals. In this report, we present additional 15 individuals from 11 families (10 Saudis and 1 Emirati) who are homozygous for the same founder mutation. In addition to the universal findings of intellectual disability and strabismus, the majority exhibited microcephaly and growth failure. Additional features not reported in the original cohort include dysmorphic facial features (prominent forehead, up-slanted palpebral fissures, epicanthus, and depressed nasal bridge), behavioral problems (hyperactivity and aggressiveness), recurrent otitis media, and growth hormone deficiency. ADAT3-related intellectual disability is an important recognizable cause of intellectual disability in Arabia.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ADAT3 | “A single homozygous founder mutation (c.382G>A:p.(V128M)) in the ADAT3 gene, which encodes a protein that functions in tRNA editing, was identified in all affected individuals.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “ADAT3-related intellectual disability: Further delineation of the phenotype.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “Other common features included growth failure, microcephaly, tone abnormalities, epilepsy, and nonspecific brain abnormalities.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “ADAT3-related intellectual disability has been recently described in 24 individuals from eight Saudi families who had cognitive impairment and strabismus.” | 0.95 | saudi_context_rules_v1 |
| variant | c.382G>A | “A single homozygous founder mutation (c.382G>A:p.(V128M)) in the ADAT3 gene, which encodes a protein that functions in tRNA editing, was identified in all affected individuals.” | 0.95 | hgvs_regex_v1 |
| variant | p.V128M | “A single homozygous founder mutation (c.382G>A:p.(V128M)) in the ADAT3 gene, which encodes a protein that functions in tRNA editing, was identified in all affected individuals.” | 0.95 | hgvs_regex_v1 |