Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q

Maciej Geremek, Frederieke Schoenmaker, Ewa Zietkiewicz, Andrzej Pogorzelski, Scott Diehl, Cisca Wijmenga, Michal Witt

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disorder, which shows extensive genetic heterogeneity and is mostly inherited in an autosomal recessive fashion. There are four genes with a proven pathogenetic role in PCD. DNAH5 and DNAI1 are involved in 28 and 10% of PCD cases, respectively, while two other genes, DNAH11 and TXNDC3, have been identified as causal in one PCD family each. We have previously identified a 3.5cM (2.82Mb) region on chromosome 15q linked to Kartagener syndrome (KS), a subtype of PCD characterized by the randomization of body organ positioning. We have now refined the KS candidate region to a 1.8Mb segment containing 18 known genes. The coding regions of these genes and three neighboring genes were subjected to sequence analysis in seven KS probands, and we were able to identify 60 single nucleotide sequence variants, 35 of which resided in mRNA coding sequences. However, none of the variations alone could explain the occurrence of the disease in these patients.

Original languageEnglish (US)
Pages (from-to)688-695
Number of pages8
JournalEuropean Journal of Human Genetics
Volume16
Issue number6
DOIs
StatePublished - Jun 2008

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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