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Article

Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.

European journal of medical genetics - 1 May 2017

Cherkaoui Jaouad Imane, Lyahyai Jaber, Guaoua Soukaina, El Alloussi Mustapha, Zrhidri Abdelali, Doubaj Yassamine, Boulanouar Abdelkrim, Sefiani Abdelaziz

Abstract excerpt

Jalili syndrome is a rare autosomal recessive genetic disease characterized by the association of amelogenesis imperfecta and cone-rod retinal dystrophy. This syndrome is caused by mutations in the CNNM4 gene. Different types of CNNM4 mutations have been reported; missense, nonsense, large deletions, single base insertion, and duplication. We used Sanger sequencing to analyze a large consanguineous family with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28246031
DOI: 10.1016/j.ejmg.2017.02.004

Genes

CNNM4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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