The authors declare no conflict of interest.
Article first published online: 22 APR 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 5, pages 1300–1304, May 2010
How to Cite
LePichon, J.-B., Bittel, D. C., Graf, W. D. and Yu, S. (2010), A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes. Am. J. Med. Genet., 152A: 1300–1304. doi: 10.1002/ajmg.a.33374
How to Cite this Article: LePichon JB, Bittel DC, Graf WD, Yu S. 2010. A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes. Am J Med Genet Part A 152A:1300–1304.
- Issue published online: 22 APR 2010
- Article first published online: 22 APR 2010
- Manuscript Accepted: 24 DEC 2009
- Manuscript Received: 9 SEP 2009
- microarray comparative genomic hybridization (aCGH);
- 15q13.3 homozygous deletion;
We identified a novel homozygous 15q13.3 microdeletion in a young boy with a complex neurodevelopmental disorder characterized by severe visual impairment, hypotonia, profound intellectual disability, and refractory epilepsy. The homozygous deletion of the genes within this deleted region provides a useful insight into the pathogenesis of the observed clinical phenotype. Absence of the Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) gene product is proposed as a possible mechanism for the severe visual impairment; absence of CHRNA7 (alpha7-nicotinic receptor subunit) as a cause of the refractory seizures and severe cognitive impairment; and deletion of MTMR10 and/or MTMR15 (encoding myotubularin related proteins) alone or combined with other homozygously deleted genes as a cause for the congenital hypotonia with areflexia. The distinctive clinical findings in this patient reveal potential functions of the genes within the deleted region. © 2010 Wiley-Liss, Inc.