Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome

V. Lisi, A. Guala, A. Lopez, M. Vitali, E. Spadoni, C. Olivieri, Cesare Danesino, M. Mottes

Research output: Contribution to journalArticle

Abstract

Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome: The Stickler syndrome is among the most common heritable disorders of connective tissue. The syndrome fully expressed clinical phenotype includes the degeneration of the vitreous gel and retina, frequently associated with myopia, accompanied by non-ocular features, such as craniofacial dysmorphisms or malformations, hearing impairment, skeletal dysplasia and progressive arthropathy. So far, mutations at three collagen loci, COL2A1, COL11A1 and COL11A2, have been found in Stickler syndrome patients, with about two thirds of investigated familial cases found to be associated to COL2A1 gene mutations. We report on a three generation family in which a diagnosis of Stickler syndrome was made and linkage analysis suggested COL2A1 to be the causing gene. These data permitted us to perform two prenatal diagnosis analysing the 3′VNTR polymorphism of the involved gene on amniocytes' DNA and to provide the family with genetic counselling and paediatric support at the delivery.

Original languageEnglish
Pages (from-to)163-170
Number of pages8
JournalGenetic Counseling
Volume13
Issue number2
Publication statusPublished - 2002

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Keywords

  • COL2A1
  • Genetic counseling
  • Linkage analysis
  • Prenatal diagnosis
  • Stickler syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Lisi, V., Guala, A., Lopez, A., Vitali, M., Spadoni, E., Olivieri, C., Danesino, C., & Mottes, M. (2002). Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. Genetic Counseling, 13(2), 163-170.