The clinical spectrum of homozygous HOXA1 mutations.
PMID 18412118 | PMCID PMC3517166 | DOI 10.1002/ajmg.a.32262 · American journal of medical genetics. Part A · 2008 · View on PubMed ↗
We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS). Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous HOXA1 mutations. Two ABDS probands had relatively mild mental retardation. These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HOXA1 | “The clinical spectrum of homozygous HOXA1 mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital heart disease | “Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous HOXA1 mutations.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hearing loss | “Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous HOXA1 mutations.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “Two ABDS probands had relatively mild mental retardation.” | 0.93 | phenotype_alias_lexicon_v2 |