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Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers AMERICAN JOURNAL OF MEDICAL GENETICS PART A Zaki, M. S., Sattar, S., Massoudi, R. A., Gleeson, J. G. 2011; 155A (12): 3042-3049

Abstract

Disorders within the "ciliopathy" spectrum include Joubert (JS), Bardet-Biedl syndromes (BBS), and nephronophthisis (NPHP). Although mutations in single ciliopathy genes can lead to these different syndromes between families, there have been no reports of phenotypic discordance within a single family. We report on two consanguineous families with discordant ciliopathies in sibling. In Ciliopathy-672, the older child displayed dialysis-dependent NPHP whereas the younger displayed the pathognomonic molar tooth MRI sign (MTS) of JS. A second branch displayed two additional children with NPHP. In Ciliopathy-1491, the oldest child displayed classical features of BBS whereas the two younger children displayed the MTS. Importantly, the children with BBS and NPHP lacked MTS, whereas children with JS lacked obesity or NPHP, and the child with BBS lacked MTS and NPHP. Features common to all three disorders included intellectual disability, postaxial polydactyly, and visual reduction. The variable phenotypic expressivity in this family suggests that genetic modifiers may determine specific clinical features within the ciliopathy spectrum.

View details for DOI 10.1002/ajmg.a.34173

View details for Web of Science ID 000297200300023

View details for PubMedID 22002901