Das Bardet-Biedl-Syndrom

Zusammenfassung

Das Bardet-Biedl-Syndrom (BBS) ist eine seltene klinisch und genetisch heterogene Erkrankung. Als Leitsymptome treten Adipositas, Polydaktylie, retinale Dystrophie, mentale Retardierung, Nierenerkrankungen und Hypogonadismus auf. Bei Patienten mit BBS besteht außerdem ein erhöhtes Risiko für zahlreiche weitere Erkrankungen, z. B. Herzerkrankungen, Diabetes mellitus, arterielle Hypertonie und Lebererkrankungen. Im menschlichen Genom konnten bisher acht Loci identifiziert werden, die mit dem BBS in Verbindung gebracht werden. In sieben dieser Loci konnte das verantwortliche Gen bereits kloniert werden. Die Funktion der Gene und ihrer Genprodukte sowie die Mechanismen, die zur Erkrankung führen bzw. deren Schwere beeinflussen, bergen noch viele Rätsel. Neue Forschungsergebnisse zeigen einen triallelischen Vererbungsmechanismus in einem Teil der Fälle auf und weisen auf eine ziliäre Dysfunktion als pathogenetisches Korrelat des BBS hin.

Summary

Bardet-Biedl syndrome is a rare disorder that exhibits significant clinical and genetic heterogeneity. Clinical features include obesity, polydactyly, pigmentary retinal dystrophy, mental retardation and developmental delay, renal defects and hypogonadism. Besides these cardinal findings congenital and acquired heart disease, diabetes mellitus, hypertension and hepatic fibrosis have been reported in patients with BBS. At present, BBS is known to map to at least eight loci, seven genes have been cloned so far. The function of these genes and the disease mechanisms remain unclear to a great extent. Recent findings provide evidence for a triallelic model of disease transmission and suggest that ciliary dysfunction is an important aspect of BBS pathogenesis.

Schlüsselwörter

Oligogene Vererbung - triallelische Vererbung - ziliäre Dysfunktion

Keywords

Oligogenic inheritance - triallelic inheritance - ciliary dysfunction

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