Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

doi:10.1093/hmg/dds166

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Article

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

Human molecular genetics - 1 Aug 2012

Dharmadhikari Avinash V, Kang Sung-Hae L, Szafranski Przemyslaw, Person Richard E, Sampath Srirangan, Prakash Siddharth K, Bader Patricia I, Phillips John A, Hannig Vickie, Williams Misti, Vinson Sherry S, Wilfong Angus A, Reimschisel Tyler E, Craigen William J, Patel Ankita, Bi Weimin, Lupski James R, Belmont John, Cheung Sau Wai, Stankiewicz Pawel

Abstract excerpt

We have identified a rare small (~450 kb unique sequence) recurrent deletion in a previously linked attention-deficit hyperactivity disorder (ADHD) locus at 2q21.1 in five unrelated families with developmental delay (DD)/intellectual disability (ID), ADHD, epilepsy and other neurobehavioral abnormalities from 17 035 samples referred for clinical chromosomal microarray analysis. Additionally, a DECIPHER...

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Identifiers

PMID: 22543972
DOI: 10.1093/hmg/dds166
PMCID: PMC3392111

Genes

ARHGEF4
GPR148
FAM168B
PLEKHB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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