Syndromic ciliopathy

Syndromic ciliopathy includes Joubert syndrome (JS) and related diseases (JSRD), Meckel-Gruber syndrome (MKS) and Bardet-Biedl syndrome (BBS). They are ascribed to disorders of certain cell organelles, the so-called cilia, and show a large genetic diversity (heterogeneity). At least 34 causative genes are known for the Joubert syndrome, at least 13 causative genes for the Meckel-Gruber syndrome and at least 21 causative genes for the Bardet-Biedl syndrome. In addition, the syndromes mentioned clinically show a large overlap, so that it is not always possible to assign the ciliopathy to one of the syndromes. Conversely, mutations, for example, in the CEP290 gene can lead to the Meckel-Gruber syndrome, the Joubert syndrome, as well as the Bardet-Biedl syndrome. Furthermore, in particular for the Bardet-Biedl syndrome in the literature, an oligogenic/triallelic heredity is described in which the phenotype is the result of a combined effect of different alleles in several genes, which may be associated with additional complexity in molecular genetic diagnostics. Against the background of this clinical and genetic heterogeneity in the syndromic ciliopathies mentioned, it may therefore be useful to examine several disease-relevant genes in parallel in a so-called “panel analysis”.

The photo above reveals clinical features of JS/ JSRD, BBS and FMD and phenotypic overlap. The main features are highlighted in grey. Additional features that do not define the classic JS, but occur in the JSRD, are indicated in grey font. (DPM = malformation of the ductal plate, MCP = multicystic dysplastic, NPH = nephronophthisis, PF = portal fibrosis, RCD = rod-cone dystrophy)

AHI1, ANKS6, ARL13B, ARL6, ARMC9, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C3CD3, C5orf42, C8ORF37, CC2D2A, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CSPP1, DCDC2, DDX59, DYNC2H1, DYNC2LI1, EVC, EVC2, GLI3, GLIS2, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, INPP5E, INVS, IQCB1, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, LZTFL1, MAPKBP1, MKKS, MKS1, NEK1, NEK8, NPHP1, NPHP3, NPHP3, NPHP4, OFD1, PDE6D, PIBF1, POC1B, RPGRIP1L, SCLT1, SDCCAG8, SRTD1

Order and consent for genetic testing

Basic panel:BBS1-BB13

Stage 2:
BBS14-BBS21 or possibly syndromic ciliopathy panel with ca. 90 genes after consultation

Order and consent for genetic testing

Basic panel:
JBTS2, JBTS3, JBTS5, JBTS6, JBTS7, JBTS8, JBTS9

Stage 2:
JBTS1, JBTS4, JBTS10-34 or possibly syndromic ciliopathy panel with ca. 90 genes after consultation

Order and consent for genetic testing

Basic panel:
MKS1-MKS6, MKS8, MKS9, MKS10

Stage 2:
MKS7, MKS11, MKS12, MKS13 or possibly syndromic ciliopathy panel with ca. 90 genes after consultation

Order and consent for genetic testing

Further Information

  • Depending on clinical symptoms an individual selection of genes can be analysed using NGS-Panel. For this we ask for short consultation (humangenetikukaachende or by phone +49 241 80-89178 or 80-80427).
  • For some genes allelic diseases are described, this means some mutations in one gene can lead to different clinical symptoms and therefore to different diagnoses. Some genes may only be listed in one of the sub-panels, but are also offered by us. For this please not the alphabetic list of the entire panel.