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A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1 , CHRNA7 , and other homozygously deleted genes
Author(s) -
LePichon JeanBaptiste,
Bittel Douglas C.,
Graf William D.,
Yu Shihui
Publication year - 2010
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.33374
Subject(s) - hypotonia , genetics , biology , gene , phenotype , neurodevelopmental disorder , epilepsy , subfamily , neuroscience
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.