☆ 4.2 Article

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Journal

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Volume 158A, Issue 8, Pages 1948-1952

Publisher

WILEY-BLACKWELL

DOI: 10.1002/ajmg.a.35301

Keywords

COL2A1; Torrance; spondyloperipheral dysplasia

Categories

Genetics & Heredity

Funding

Belgian FNRS
Fonds Erasme
Research Foundation-Flanders (F.W.O.) [G.0331.03]
GOA
Ghent University [12051203]

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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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