TY - JOUR
T1 - A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features
AU - Liao, Jun
AU - Deward, Stephanie J.
AU - Madan-Khetarpal, Suneeta
AU - Surti, Urvashi
AU - Hu, Jie
PY - 2011/11
Y1 - 2011/11
N2 - 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 410kb, 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.
AB - 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 410kb, 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.
KW - 15q13.3 microdeletion
KW - CHRNA7
KW - Homozygous deletion
KW - Microarray comparative genomic hybridization (array-CGH)
UR - http://www.scopus.com/inward/record.url?scp=80054918557&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.34237
DO - 10.1002/ajmg.a.34237
M3 - Article
C2 - 21990074
AN - SCOPUS:80054918557
SN - 1552-4825
VL - 155
SP - 2795
EP - 2800
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 11
ER -