Title
Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same **COL2A1** mutation Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same **COL2A1** mutation
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Bognor Regis ,
Subject
Human medicine
Source (journal)
American journal of medical genetics : part A. - Bognor Regis, 2003, currens
Volume/pages
158(2012) :8 , p. 1948-1952
ISSN
1552-4825
ISI
000306651400021
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), a rare skeletal dysplasia characterized by platyspondyly, extremely short limbs, and mild brachydactyly. Mutation analysis of COL2A1 identified a novel in-frame deletion c.4458_4460delCTT (p.Phe1486del) in the C-propeptide region of the molecule, confirming the clinical diagnosis. The phenotype in the mother was compatible with mild spondyloperipheral dysplasia (SPPD). Molecular studies documented somatic mosaicism for the same mutation in the mother. This observation further highlights the causal relationship between PLSD-T and SPPD and emphasizes the importance of evaluating parents when confronted with a skeletal dysplasia in a prenatal setting. (C) 2012 Wiley Periodicals, Inc.
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