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Article

A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2025

Tawfik Caroline Atef, Aly Haneen Sabry, Kabeel Menna, Yousri Iman, Mohamed Sara Abdallah

Abstract excerpt

PURPOSE: To report a novel homozygous mutation in CNNM4 gene associated with Jalili syndrome (JS) which is a rare, recessively inherited oculo-dental syndrome which encompasses cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI). METHODS: A 4-year-old male patient of consanguineous Egyptian parents, who presented with progressive visual impairment and tooth decay underwent complete ophthalmological...

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Identifiers

PMID: 40232358
DOI: 10.1007/s10633-025-10018-1
PMCID: PMC12137488

Genes

CNNM4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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