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Article

A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family.

Molecular vision - 1 Jan 2024

Chacon-Camacho Oscar Francisco, Flores-Lagunes Luis Leonardo, Small Kent W, Udar Nitin, Udar Uma, Diaz Amber, Arce-González Rocío, Molina-Garay Carolina, Martínez-Aguilar Alan, Montes-Almanza Luis, Garcia-Martinez Froylan, Gudiño Adriana, Matsui-Serrano Rodrigo, Fest-Parra Scarlett, Alaez-Verson Carmen, Shaya Fadi, Zenteno Juan Carlos

Abstract excerpt

Purpose: North Carolina macular dystrophy (NCMD) is a rare autosomal dominantly inherited congenital maculopathy caused by either non-coding point mutations or tandem duplications in the DNase I hypersensitivity site DHS6S1, at chromosome 6q16 (MCDR1), or at chromosome 5 (MCDR3). To date, at least 30 NCMD pedigrees from different ethnicities have been genetically identified worldwide. Herein, we report the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39959174
PMCID: PMC11829779

Genes

PRDM13
DNASE1
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family.PMID 39959174Read ↗

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