Document Detail

Liebenberg Syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the Upper Limbs to reflect Lower limb characteristics.
MedLine Citation:
PMID:  23587911     Owner:  NLM     Status:  Publisher    
Liebenberg Syndrome (MIM 186550) is a very rare autosomal dominant condition characterized by three main features: dysplasia of all of the bony components of the elbow joint, abnormalities in the shape of carpal bones, and brachydactyly. In this paper, we report a Saudi Arabian family with Liebenberg syndrome. Comparative genomic hybridization (CGH) revealed a 275-kb deletion within the cytogenetic band 5q31.1 which contains the H2AFY gene and 190,428bp of its downstream region. The deleted region is upstream to the PITX1 gene. The radiological features in the upper limbs of all affected members of the family were almost identical to the phenotype in the mouse model with ectopic expression of Pitx1 in the forelimbs. We therefore re-define the phenotype of Liebenberg syndrome as a transformation of the upper limbs to reflect lower limb characteristics and speculate that the area of deletion contains a regulatory sequence that suppresses the expression of PITX1 in the upper limb buds.
Mohammad M Al-Qattan; Abdullah Al-Thunayan; Ibrahim Alabdulkareem; Mohammed Al Balwi
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-4-12
Journal Detail:
Title:  Gene     Volume:  -     ISSN:  1879-0038     ISO Abbreviation:  Gene     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-4-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7706761     Medline TA:  Gene     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013 Elsevier B.V. All rights reserved.
Department of Surgery, King Saud University, Riyadh, Saudi Arabia.
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