Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

GianMarco Ghiggeri, Gianluca Caridi, Paola Altieri, Annalisa Pezzolo, Giorgio Gimelli, Orsetta Zuffardi

Research output: Contribution to journalArticlepeer-review

Abstract

The COL5A1 gene, which encodes the pro α1(V) chain, was recently mapped to 9q34.3 in the same region as the nail-patella locus. This was taken as an indication that the nail-patella syndrome may be an inherited connective tissue disorder. We demonstrate COL5A1 heterozygous deletion and fibroblast under-expression of α1(V) chains in a girl with an unbalanced translocation resulting in 9q32→qter monosomy. The patient presents dysplastic nails, a sign typical of nail-patella syndrome, but normal patella. Moreover, she has skin and bone disorders similar to those found in the Goltz syndrome. We suggest that monosomy for the COL5A1 gene is responsible for these connective tissue disorders. Accordingly, the nail-patella syndrome could be attributable to mutations inside the COL5A1 gene rather than to a deletion of it.

Original languageEnglish
Pages (from-to)175-177
Number of pages3
JournalHuman Genetics
Volume91
Issue number2
DOIs
Publication statusPublished - Mar 1993

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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