Stickler syndrome: Clinical characteristics and diagnostic criteria

Peter S. Rose, Howard P. Levy, Ruth M. Liberfarb, Joie Davis, Y. Szymko-Bennett, Benjamin I. Rubin, Ekaterini Tsilou, Andrew J. Griffith, Clair A. Francomano

Research output: Contribution to journalArticlepeer-review

Abstract

The purpose of this study was to establish diagnostic criteria for Stickler syndrome. Ninety patients from 38 families had complete evaluations for possible Stickler syndrome. Molecular confirmation of COL2A1 mutation status (type I Stickler syndrome) was available on 25 patients from six families. In the remaining 65 patients, 47 from 25 families were affected with Stickler syndrome and 18 from seven families were unaffected with Stickler syndrome. A diagnostic nosology based on type I Stickler patients with known COL2A1 mutations was applied to clinically affected and unaffected patients. A diagnostic scale of 9 points evaluated molecular data or family history data and characteristic ocular, orofacial, auditory, and musculoskeletal findings. A score of ≥5 was diagnostic of Stickler syndrome. These criteria demonstrate 100% sensitivity when applied to type I Stickler syndrome patients with known COL2A1 mutations, 98% sensitivity when applied to clinically affected Stickler patients, and 86% specificity when applied to patients unaffected based on clinical and/or molecular analysis. We conclude that diagnostic criteria based on type I Stickler patients with molecularly confirmed COL2A1 mutations appear to be sensitive and specific for the diagnosis of this syndrome and should be helpful to clinicians when making the diagnosis.

Original languageEnglish (US)
Pages (from-to)199-207
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume138 A
Issue number3
DOIs
StatePublished - Oct 15 2005

Keywords

  • Diagnostic criteria
  • Nosology
  • Stickler syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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