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Article

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Journal of medical genetics - 1 Jul 2019

Johnston Jennifer J, Williamson Kathleen A, Chou Christopher M, Sapp Julie C, Ansari Morad, Chapman Heather M, Cooper David N, Dabir Tabib, Dudley Jeffrey N, Holt Richard J, Ragge Nicola K, Schäffer Alejandro A, Sen Shurjo K, Slavotinek Anne M, FitzPatrick David R, Glaser Thomas M, Stewart Fiona, Black Graeme Cm, Biesecker Leslie G

Abstract excerpt

BACKGROUND: A single variant in NAA10 (c.471+2T>A), the gene encoding N-acetyltransferase 10, has been associated with Lenz microphthalmia syndrome. In this study, we aimed to identify causative variants in families with syndromic X-linked microphthalmia. METHODS: Three families, including 15 affected individuals with syndromic X-linked microphthalmia, underwent analyses including linkage analysis, exome...

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Identifiers

PMID: 30842225
DOI: 10.1136/jmedgenet-2018-105836
PMCID: PMC7032957

Genes

NAA10

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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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