Structural eye disease

Gene: CDH4

I don't know

CDH4 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35034853 identified a monoallelic CDH4 variant in a case with unilateral right iris coloboma and intellectual disability, postnatal
and microcephaly. In situ hybridization showed that cdh4 was expressed in the ciliary marginal zone and
periocular mesenchyme cells in zebrafish embryos at 48 & 56 hpf (PMID: 35034853, Fig S1) and knockdown of cdh4 morphants displayed microphthalmia (FigS3), together with pleiotropic developmental defects. PMID: 15918170 had previously reported evidence of brain disorganization in a cdh4 knockdown zebrafish.

Created: 17 Oct 2023, 5:17 p.m. | Last Modified: 19 Oct 2023, 12:04 p.m.

Panel Version: 3.31

I don't know

PMID: 35034853 - patient with an iris coloboma, intellectual disability, and microcephaly. Heterozygous variant in CDH4 found - NM_001794.5:c.1291C>T, p.(Arg431Cys). Not found in unaffected mother
Knockdown of cdh4 in zebrafish led to ocular maldevelopment (as has been previously reported)
Sources: Literature

Created: 12 Sep 2023, 12:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Iris coloboma, intellectual disability, and microcephaly

Publications

• 35034853