A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

Jun Liao, Stephanie J. Deward, Suneeta Madan-Khetarpal, Urvashi Surti, Jie Hu

Research output: Contribution to journalArticlepeer-review

40 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)2795-2800
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number11
DOIs
StatePublished - Nov 2011
Externally publishedYes

Keywords

  • 15q13.3 microdeletion
  • CHRNA7
  • Homozygous deletion
  • Microarray comparative genomic hybridization (array-CGH)

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