Ocular colobomaGene: SPINT2
Comment on list classification: Kept rating as Red: 2 cases of congenital sodium diarrhea (CSD) with ocular coloboma, but second variant wasn't identified in the 2014 paper (PMID:24142340).
Created: 2 Oct 2018, 4:01 p.m.
PMID:29575628 (Hirabayashi et al 2018) present a child with congenital sodium diarrhea, bilateral cleft lip and palate, corneal erosions, optic nerve coloboma and intermittent exotropia who was found to have compound heterozygous variants in SPINT2 (c.488A>G/p.Tyr163Cys and c.166_167dupTA/p.Asn57Thrfs*24). This is second reported case of an optic nerve coloboma associated with a SPINT2 variant: Salomon et al. (2014, PMID:24142340) reported a patient with optic nerve coloboma. The patient was heterozygous for Tyr163Cys but a second SPINT2 variant was not identified.
Created: 2 Oct 2018, 3:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Diarrhea 3, secretory sodium, congenital, syndromic, 270420; optic nerve coloboma; congenital sodium diarrhea with additional features
Gene: spint2 has been classified as Red List (Low Evidence).
gene: SPINT2 was added gene: SPINT2 was added to Ocular coloboma. Sources: Literature Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINT2 were set to 29575628; 24142340 Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420; optic nerve coloboma; congenital sodium diarrhea with additional features