A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

doi:10.1016/j.ajhg.2016.12.013

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Article

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

American journal of human genetics - 2 Feb 2017

Schoch Kelly, Meng Linyan, Szelinger Szabolcs, Bearden David R, Stray-Pedersen Asbjorg, Busk Oyvind L, Stong Nicholas, Liston Eriskay, Cohn Ronald D, Scaglia Fernando, Rosenfeld Jill A, Tarpinian Jennifer, Skraban Cara M, Deardorff Matthew A, Friedman Jeremy N, Akdemir Zeynep Coban, Walley Nicole, Mikati Mohamad A, Kranz Peter G, Jasien Joan, McConkie-Rosell Allyn, McDonald Marie, Wechsler Stephanie Burns, Freemark Michael, Kansagra Sujay, Freedman Sharon, Bali Deeksha, Millan Francisca, Bale Sherri, Nelson Stanley F, Lee Hane, Dorrani Naghmeh, Goldstein David B, Xiao Rui, Yang Yaping, Posey Jennifer E, Martinez-Agosto Julian A, Lupski James R, Wangler Michael F, Shashi Vandana

Abstract excerpt

Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile...

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Identifiers

PMID: 28132692
DOI: 10.1016/j.ajhg.2016.12.013
PMCID: PMC5294886

Genes

NACC1

Variants

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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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