HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome

Elena Bianchi, Salvatore Savasta, Alberto Calligaro, Giampiero Beluffi, Paola Poggi, Marco Tinelli, Emilio Mevio, Miryam Martinetti

Research output: Contribution to journalArticlepeer-review


The immotile-cilia syndrome (ICS) is a congenital disorder characterized by dysmotility or even complete immotility of the cilia in the ciliated epithelia. The most frequent consequences include recurrent air-way infections from early childhood. Neonatal asphyxia often occurs. Males are usually sterile, whereas females may be fertile or infertile. The disease is inherited as an autosomal recessive trait, but previous attempts to localize the ICS susceptibility gene have so far been unsuccessful. Here, we present the case of two sib pairs affected by ICS from two unrelated families. The electron microscopic investigation of nasal biopsies showed structural anomalies of the cilia, characterized by single microtubules or doublets, arranged randomly in the axoneme. Histocompatibility antigen (HLA)-genotyping of all family members revealed: 1) a significant association of ICS with the HLA-DR7; DQW2 haplotype, which is shared by all the affected sibs (P = 0.0099; RR = 25.94); 2) a possible linkage of the ICS susceptibility gene with HLA, both the affected sibs being HLA-identical, the healthy brother in family B being HLA-different (sibpair analysis: P <0.001).

Original languageEnglish
Pages (from-to)270-274
Number of pages5
JournalHuman Genetics
Issue number3
Publication statusPublished - May 1992

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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