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Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature
Author(s) -
Motobayashi Mitsuo,
NishimuraTadaki Akira,
Inaba Yuji,
Kosho Tomoki,
Miyatake Satoko,
Niimi Taemi,
Nishimura Takafumi,
Wakui Keiko,
Fukushima Yoshimitsu,
Matsumoto Naomichi,
Koike Kenichi
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35235
Subject(s) - microcephaly , intellectual disability , comparative genomic hybridization , epilepsy , microdeletion syndrome , topiramate , genetics , medicine , bioinformatics , biology , gene , chromosome , psychiatry
2q23.1 microdeletion syndrome is a recently characterized chromosomal aberration disorder uncovered through array comparative genomic hybridization (array CGH). Although the cardinal feature is intellectual disability (ID), neurodevelopmental features of the syndrome have not been systematically reviewed. We present a 5‐year‐old boy with severe psychomotor developmental delay/ID, progressive microcephaly with brain atrophy, growth retardation, and several external anomalies. He manifested intractable epilepsy, effectively treated with combined antiepileptic drug therapy including topiramate. Array CGH demonstrated a de novo interstitial deletion of approximately 1 Mb at 2q23.1–q23.2, involving four genes including MBD5 . Nineteen patients have been reported to have the syndrome, including present patient. All patients whose data were available had ID, 17 patients (89%) had seizures, and microcephaly was evident in 9 of 18 patients (50%). Deletion sizes ranged from 200 kb to 5.5 Mb, comprising 1–15 genes. MBD5 , the only gene deleted in all patients, is considered to be responsible for ID and epilepsy. Furthermore, the deletion junction was sequenced for the first time in a patient with the syndrome; and homology of three nucleotides, identified at the distal and proximal breakpoints, suggested that the deletion might have been mediated by recently‐delineated genomic rearrangement mechanism Fork Stalling and Template Switching (FoSTeS)/microhomology‐mediated break‐induced replication (MMBIR). © 2012 Wiley Periodicals, Inc.