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Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.

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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Menten B,Buysse K,Vermeulen S,Meersschaut V,Vandesompele J,Ng BL,Carter NP,Mortier GR,Speleman F

doi

10.1016/j.ejmg.2007.07.003

subject

Has Abstract

pub_date

2007-11-01 00:00:00

pages

446-54

issue

6

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(07)00078-X

journal_volume

50

pub_type

杂志文章

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