NDLI: Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin

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Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin

Content Provider	Springer Nature Link
Author	ALEXANDROU, ANGELOS PAPAEVRIPIDOU, IOANNIS TSANGARAS, KYRIAKOS ALEXANDROU, IOANNA TRYFONIDIS, MARIOS CHRISTOPHIDOU ANASTASIADOU, VIOLETTA ZAMBA PAPANICOLAOU, ELENI KOUMBARIS, GEORGE NEOCLEOUS, VASSOS PHYLACTOU, LEONIDAS A. SKORDIS, NICOS TANTELES, GEORGE A. SISMANI, CAROLINA
Copyright Year	2016
Abstract	Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri–Weill dyschondrosteosis (LWD) at the more severe end to SHOX-related short stature at the milder end of the spectrum. Most alterations are whole gene deletions, point mutations within the coding region, or microdeletions in its flanking sequences. Here, we present the clinical and molecular data as well as the potential molecular mechanism underlying a novel microdeletion, causing a variable SHOX-related haploinsufficiency disorder in a three-generation family. The phenotype resembles that of LWD in females, in males, however, the phenotypic expression is milder. The 15523-bp SHOX intragenic deletion, encompassing exons 3–6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of the breakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism.
Starting Page	839
Ending Page	845
Page Count	7
File Format	PDF
ISSN	00221333
Journal	Journal of Genetics
Volume Number	95
Issue Number	4
e-ISSN	09737731
Language	English
Publisher	Springer India
Publisher Date	2016-10-27
Publisher Institution	Indian Academy of Sciences
Publisher Place	New Delhi
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Leri–Weill syndrome SHOX gene intragenic deletion haploinsufficiency ARMD Life Sciences Microbial Genetics and Genomics Plant Genetics & Genomics Animal Genetics and Genomics Evolutionary Biology
Content Type	Text
Resource Type	Article
Subject	Genetics

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Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin

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Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin