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

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.

• Authors: Julie Jurgens, Nara Sobreira, Peggy Modaff, Catherine A Reiser, Soo Hyun Seo, Moon-Woo Seong, Sung Sup Park, Ok Hwa Kim, Tae-Joon Cho, Richard M Pauli
• Journal: Human mutation (Hum Mutat) Vol. 36 Issue 10 Pg. 1004-8 (Oct 2015) ISSN: 1098-1004 [Electronic] United States
• PMID: 26183434 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: © 2015 WILEY PERIODICALS, INC.

Chemical References

• COL2A1 protein, human
• Collagen Type II

Topics

• Adolescent
• Adult
• Child
• Collagen Type II (genetics)
• Exome
• Female
• Humans
• Joint Diseases (congenital, diagnostic imaging, genetics)
• Male
• Osteochondrodysplasias (diagnostic imaging, genetics)
• Pedigree
• Polymorphism, Single Nucleotide
• Radiography
• Sequence Analysis, DNA (methods)