Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

Enza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, Enrico Bertini, Tiziana Galluccio, Gaetano Tortorella, Silvana Briuglia, Bruno Dallapiccola

Research output: Contribution to journalArticle

Abstract

Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain axial images, a condition referred to as "molar tooth on imaging" (MTI) or the "molar tooth sign." The current literature on these syndromes is complex, with overlapping and incomplete phenotypes that complicate the selection of clinically homogeneous cases for genetic purposes. So far, only one locus (JBTS1 on 9q34) has been mapped, in two families with JS. Here, we describe a large consanguineous family with JS and nephronophthisis, representing a novel cerebello-renal phenotype. We have mapped this condition to the pericentromeric region of chromosome 11 and have named the locus "CORS2." The acronym "CORS" is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes.

Original languageEnglish
Pages (from-to)663-670
Number of pages8
JournalAmerican Journal of Human Genetics
Volume73
Issue number3
DOIs
Publication statusPublished - Sep 1 2003

ASJC Scopus subject areas

  • Genetics

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