Title
Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the **OPHN1** gene on Xq12 Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the **OPHN1** gene on Xq12
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Paris ,
Subject
Human medicine
Source (journal)
European journal of medical genetics. - Paris
Volume/pages
50(2007) :6 , p. 446-454
ISSN
1769-7212
ISI
000251999800006
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Abstract
We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mapped and sequenced both breakpoints. The Xq12 breakpoint was located within the gene coding for oligophrenin 1 (OPHN1) whereas the 9p13.3 breakpoint was assigned to a non-coding segment within a gene dense region. Disruption of OPHN1 by the Xq12 breakpoint was considered the major cause of the abnormal phenotype observed in the proband.
E-info
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