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Hum Mutat. 2015 Oct;36(10):1004-8. doi: 10.1002/humu.22839. Epub 2015 Aug 6.

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.

Author information

1
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205.
2
Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205.
3
Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin, 53705.
4
Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 110-744, Republic of Korea.
5
Department of Radiology, Woorisoa Children's Hospital, Seoul, 152-862, Republic of Korea.
6
Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, 110-744, Republic of Korea.

Abstract

Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal-recessive condition characterized by mild spondyloepiphyseal dysplasia (SED) and severe, progressive, early-onset arthritis due to WISP3 mutations. SED, Stanescu type, is a vaguely delineated autosomal-dominant dysplasia of unknown genetic etiology. Here, we report three individuals from two unrelated families with radiological features similar to PPRD and SED, Stanescu type who share the same novel COL2A1 variant and were matched following discussion at an academic conference. In the first family, we performed whole-exome sequencing on three family members, two of whom have a PPRD-like phenotype, and identified a heterozygous variant (c.619G>A, p.Gly207Arg) in both affected individuals. Independently, targeted sequencing of the COL2A1 gene in an unrelated proband with a similar phenotype identified the same heterozygous variant. We suggest that the p.Gly207Arg variant causes a distinct type II collagenopathy with features of PPRD and SED, Stanescu type.

KEYWORDS:

PPRD; SED; Stanescu; skeletal dysplasia; spondyloepiphyseal dysplasia tarda with progressive arthropathy; type II collagenopathy

PMID:
26183434
PMCID:
PMC4575260
DOI:
10.1002/humu.22839
[Indexed for MEDLINE]
Free PMC Article

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