Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1004-1008
Number of pages5
JournalHuman mutation
Volume36
Issue number10
DOIs
StatePublished - Oct 1 2015

Keywords

  • PPRD
  • SED
  • Skeletal dysplasia
  • Spondyloepiphyseal dysplasia tarda with progressive arthropathy
  • Stanescu
  • Type II collagenopathy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type'. Together they form a unique fingerprint.

Cite this