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Article

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.

Human mutation - 1 Dec 2012

Puffenberger Erik G, Jinks Robert N, Wang Heng, Xin Baozhong, Fiorentini Christopher, Sherman Eric A, Degrazio Dominick, Shaw Calvin, Sougnez Carrie, Cibulskis Kristian, Gabriel Stacey, Kelley Richard I, Morton D Holmes, Strauss Kevin A

Abstract excerpt

We studied a unique phenotype of cognitive delay, autistic behavior, and gait instability segregating in three separate sibships. We initiated genome-wide mapping in two sibships using Affymetrix 10K SNP Mapping Arrays and identified a homozygous 8.2 Mb region on chromosome 15 common to five affected children. We used exome sequencing of two affected children to assess coding sequence variants within the mapped...

Read the complete abstract on PubMed

Topics

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Share to Abnormalities, Multiple
Share to Child Development Disorders, Pervasive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Gait Disorders, Neurologic

Share to Guanine Nucleotide Exchange Factors

Share to Mutation, Missense

Share to Protein Transport

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 23065719
DOI: 10.1002/humu.22237

Genes

HERC2
RCC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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