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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-12

AUTHORS

ANGELOS ALEXANDROU, IOANNIS PAPAEVRIPIDOU, KYRIAKOS TSANGARAS, IOANNA ALEXANDROU, MARIOS TRYFONIDIS, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU, ELENI ZAMBA-PAPANICOLAOU, GEORGE KOUMBARIS, VASSOS NEOCLEOUS, LEONIDAS A. PHYLACTOU, NICOS SKORDIS, GEORGE A. TANTELES, CAROLINA SISMANI

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. More... »

PAGES

839-845

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12041-016-0698-y

DOI

http://dx.doi.org/10.1007/s12041-016-0698-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1009791541

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27994182


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