Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

doi:10.1002/humu.22384

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Article

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

Human mutation - 1 Oct 2013

Shuvarikov Andrey, Campbell Ian M, Dittwald Piotr, Neill Nicholas J, Bialer Martin G, Moore Christine, Wheeler Patricia G, Wallace Stephanie E, Hannibal Mark C, Murray Michael F, Giovanni Monica A, Terespolsky Deborah, Sodhi Sandi, Cassina Matteo, Viskochil David, Moghaddam Billur, Herman Kristin, Brown Chester W, Beck Christine R, Gambin Anna, Cheung Sau Wai, Patel Ankita, Lamb Allen N, Shaffer Lisa G, Ellison Jay W, Ravnan J Britt, Stankiewicz Paweł, Rosenfeld Jill A

Abstract excerpt

We describe the molecular and clinical characterization of nine individuals with recurrent, 3.4-Mb, de novo deletions of 3q13.2-q13.31 detected by chromosomal microarray analysis. All individuals have hypotonia and language and motor delays; they variably express mild to moderate cognitive delays...

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Identifiers

PMID: 23878096
DOI: 10.1002/humu.22384
PMCID: PMC4599348

Genes

BOC
DRD3
GAP43
ZBTB20

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23878096-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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