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A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features
Author(s) -
Liao Jun,
DeWard Stephanie J.,
MadanKhetarpal Suneeta,
Surti Urvashi,
Hu Jie
Publication year - 2011
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.34237
Subject(s) - hypotonia , genetics , speech delay , angelman syndrome , copy number variation , phenotype , neurodevelopmental disorder , compound heterozygosity , global developmental delay , epilepsy , expressivity , intellectual disability , gene , biology , audiology , medicine , neuroscience , genome
A broad spectrum of neurodevelopmental and psychiatric disorders with variable expressivity has been reported to be associated with 15q13.3 heterozygous microdeletions. Using oligonucleotide‐based array‐CGH analysis, we identified a small homozygous 15q13.3 deletion in a 6‐year‐old girl with significant global developmental delay, severe hypotonia, cortical visual impairment, staring spell seizure, and abnormal electroencephalogram. She inherited this deletion from both parents, each of them being a heterozygous carrier. With a minimum size of 410 kb, it is the smallest 15q13.3 homozygous microdeletion reported to date and contains only the CHRNA7 gene. By comparing the phenotype of our patient with that of the other four previously reported cases with larger homozygous or compound heterozygous deletions, we conclude that patients with homozygous deletion of 15q13.3 have consistent clinical features and loss of CHRNA7 gene alone is sufficient to cause the majority of clinical features found in these patients. © 2011 Wiley Periodicals, Inc.