Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: Implications for mapping and cloning a Duane gene

G. Calabrese, L. Stuppia, E. Morizio, P. Guanciali Franchi, F. Pompetti, R. Mingarelli, T. Marsilio, M. Rocchi, P. E. Gallenga, G. Palka, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

Duane syndrome (MIM126800) is an autosomal dominant disease responsible for 1% of all strabismus cases and has been related to a 8q12-13 contiguous gene syndrome. We report on an insertion of chromosome region 8q13-q21.2 on to band 6q25 in a patient presenting with Duane syndrome, mental retardation, and other dysmorphisms. FISH analysis using chromosome 8 radiation hybrid LIA2L indicated a concurrent deletion within the 8q rearranged region. These results were corroborated by STR-PCR analysis and FISH using YAC contig WC8.8 disclosed a deletion in 8q13. Comparison of the two known patients with Duane syndrome associated with deletion of 8q identifies a small region of overlap (SRO) of <3 cM extending from D8S533 and D8S1767 in which a Duane syndrome locus is assigned. In addition YAC analysis in our patient showed that 8q rearrangement was rather complex since 8q deletion and insertion occurred in two distinct segments separated by a region which maintained its location on 8q.

Original languageEnglish
Pages (from-to)187-193
Number of pages7
JournalEuropean Journal of Human Genetics
Volume6
Issue number3
Publication statusPublished - May 1998

Keywords

  • Chromosome 8
  • Complex rearrangement
  • Deletion
  • Duane syndrome
  • Mapping

ASJC Scopus subject areas

  • Genetics(clinical)

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