Table 3.
List of 26 ciliary genes with RDL variants in the BA probands categorized by ciliary localization and functions.
| Gene | Description | Localization / functional category | Ciliopathy association a | Inheritance b [> 1 case] |
|---|---|---|---|---|
| KIF3B | kinesin family member 3B | IFT-kinesin | De novo | |
| DNAH8 | dynein axonemal heavy chain 8 | Outer dynein arm | Spermatogenesis defects | Homo [2] |
| BBS9 | Bardet-Biedl syndrome 9 | BBSome-IFT-associated, basal body | Bardet-Biedl syndrome 9 | Homo |
| GLI1 | GLI family zinc finger 1 | Axoneme (tip), transcription factor | CompHet | |
| MYO15A | myosin XVA | Axoneme (tip) | CompHet | |
| TEKT4 | tektin 4 | Axoneme | Asthenozoospermia (M); subfertility (M) | Homo |
| PKD1 | polycystin 1, transient receptor potential channel interacting | Axoneme, membrane - signaling | ADPKD | CompHet [2] |
| PKHD1 | PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Axoneme, basal body - signaling | ARPKD | CompHet |
| TTLL3 | tubulin tyrosine ligase like 3 | Axoneme modification | CompHet | |
| PCNT | pericentrin | Centrosome | Microcephalic osteodysplastic primordial dwarfism, type II | De novo |
| HAUS1 | HAUS augmin like complex subunit 1 | Centrosome | Homo | |
| CLASP1 | cytoplasmic linker associated protein 1 | Centrosome; microtubule plus-end | Homo | |
| CEP131 | centrosomal protein 131 | Centriolar Satellite | De novo | |
| PCM1 | pericentriolar material 1 | Centriolar Satellite | CompHet | |
| SPAG17 | sperm associated antigen 17 | Central Pair | CompHet | |
| SPEF2 | sperm flagellar 2 | Central Pair | Spermatogenesis defects (M); PCD (M) | De novo |
| USH2A | usherin | Basal body | Usher syndrome; retinitis pigmentosa | CompHet [3] |
| DCTN1 | dynactin subunit 1 | Subdistal appendage, basal foot | ALS; Perry syndrome; neuropathy, distal hereditary motor, type VIIB | CompHet |
| TTC17 | tetratricopeptide repeat domain 17 | Actin filament polymerization | De novo | |
| DHRS3 | dehydrogenase/reductase 3 | Membrane | Homo | |
| PROM1 | prominin 1 | Membrane, endoplasmic reticulum | Homo | |
| NOTCH1 | notch receptor 1 | Signalling | CompHet | |
| PKHD1L1 | PKHD1 like 1 | Signalling | CompHet | |
| SYNE2 | spectrin repeat containing nuclear envelope protein 2 | Trafficking, actin remodeling | Emery-dreifuss muscular dystrophy 5 | Homo, CompHet |
| EXOC6 | exocyst complex component 6 | Exocytosis - vesicle docking | Homo | |
| LAMA5 | laminin subunit alpha 5 | Extracellular - integrin binding | CompHet |
a
Abbreviation: (M), phenotypes specific to mice; ADPKD, Autosomal dominant polycystic kidney disease; ALS, Amyotrophic lateral sclerosis; ARPKD, autosomal recessive polycystic kidney disease; BBSome, Bardet-Biedl syndrome complex; IFT, intraflagellar transport; PCD, primary cilia dyskinesia.
b
Mutation type: Homo, homozygous; CompHet, compound heterozygous. Number in brackets indicates case count (> 1) of RDL variants.