Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.
PMID 26957854 | PMCID PMC4759893 | DOI 10.4103/0974-9233.171779 · Middle East African journal of ophthalmology · 2016 · View on PubMed ↗
UNLABELLED: To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome. CASE REPORTS: Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes. Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c. 743C > T; p.S248 L). Case 2 describes a girl with marked nystagmus, photophobia, and retinal changes in both eyes with short and stubby fingers tapering at the distal phalanges. The electroretinograms were nonrecordable in each eye. She had a hearing aid in the left ear, mid-facial hypoplasia, bilateral enophthalmos, and insulin dependent diabetes. Mutation screening of candidates genes revealed a pathogenic mutation in ALMS1 gene (c. 8441C > A, p.S2814). Two novel mutations causing phenotypic LCA and Alström syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GUCY2D | “Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c.” | 0.98 | hgnc_dict_v1 |
| gene | ALMS1 | “Mutation screening of candidates genes revealed a pathogenic mutation in ALMS1 gene (c.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Leber congenital amaurosis | “UNLABELLED: To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Alstrom syndrome | “UNLABELLED: To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “She had a hearing aid in the left ear, mid-facial hypoplasia, bilateral enophthalmos, and insulin dependent diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy. UNLABELLED: To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome. Two novel mutations causing phenotypic LCA and Alström syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies.” | 0.95 | saudi_context_rules_v1 |