Table 1.

Genetic and clinical findings in ten patients with a skeletal ciliopathy.

Gene	Variant (ClinVar accession)	Variant prediction	Type of variant	Main clinical features	Reference
WDR35	NM_001006657.1:c.25-2A > G; NP_001006658.1:p.Ile9fs*7 (SCV000020180.2)	ClinVar: Pathogenic CADD score 34	CH, nonsense	Skeletal: Narrow thorax, pectus excavatum, brachydactyly, syndactyly (feet), polydactyly (hands), short stature, dolichocephaly, craniosynostosis Facial: Telecanthus, narrow palpebral fissure, unilateral ptosis, hypertelorism, strabismus, low-set ears, everted lower lip, micrognathia Kidneys: Renal insufficiency Other: Joint laxity, teeth abnormalities, recurrent lung infections	Gilissen et al. [8] (patient 1)
	NM_001006657.1:c.1877T > C; NP_001006658.1:p.Glu626Gly (SCV000020181.2)	ClinVar: Pathogenic CADD score 35	CH, missense
IFT43	NM_052873.2:c.1A > G; NP_443105.2:p.Met1_Lys21 del (SCV000045384.3)	ClinVar: Pathogenic CADD score 25	Homozygous, deletion	Skeletal: Narrow thorax, brachydactyly, polydactyly (hands and feet), syndactyly (feet), short long bones, short stature, scaphocephaly, craniosynostosis Facial: Frontal bossing, telecanthus, everted lower lip, micrognathia Kidneys: NPHP, ESRD at 3 years old Other: Joint laxity, liver cirrhosis, teeth abnormalities, nail and hair abnormalities, skin laxity, cardiac abnormalities	Arts et al. [21] (patient 2)
WDR19	NM_025132.3:c.2129T > C; NP_079408.3:p.Leu710Ser (SCV000044972.5)	ClinVar: Pathogenic CADD score 28	CH, missense	Skeletal: Narrow thorax, brachydactyly, pectus excavatum, hip dysplasia (recovered), spinal abnormalities Kidneys: NPHP-like nephropathy, renal transplant at 14 years old Other: Retinitis pigmentosa, joint hypermobility, teeth abnormalities, skin laxity, thick nails, bone marrow hypoplasia	Bredrup et al. [10]
	NM_025132.3:c.3307C > T; NP_079408.3:p.Arg1103* (SCV000044973.5)	ClinVar: Pathogenic CADD score 38	CH, nonsense
WDR35	NM_001006657.1:c.932C > A; NP_001006658.1:p.Trp311Leu (SCV001548279.1)	ClinVar: Pathogenic CADD score 28	CH, missense	Skeletal: Short stature, brachydactyly, polydactyly (hands), short long bones Kidneys: Bilateral renal cysts, renal transplant Other: Hyperextensibility in fingers, arthogryposis, retinitis pigmentosa, liver cirrhosis, teeth abnormalities, recurrent lung infections, pancreatic cysts, ovarian cysts	Not previously reported
	NM_001006657.1:c.3396-29_3396-18del; r.spl? (SCV001481988.2)	ClinVar: unknown CADD score 8	CH, missense
WDR19	NM_025132.3:c.20T > C; NP_079408.3:p.Leu7Pro (SCV000044974.3)	ClinVar: Pathogenic CADD score 27	Homozygous, missense	Skeletal: Narrow thorax, brachydactyly, rhizomelic abnormalities of long bones, pelvic abnormalities, short stature, inguinal hernia Facial: Wide nasal bridge, thin upper lip Kidneys: Small, proteinuria, renal transplant at 5 years and 12 years old Other: Enlarged liver, yellow teeth, a supernumerary nipple on left side	Bredrup et al. [10]; de Vries et al. [4] (patient 1)
DYNC2H1	NM_001080463.1:c.9044A > G; NP_001073932.1:p.Asp3015Gly (SCV000814721.1)	ClinVar: Pathogenic CADD score 33	CH, missense	Skeletal: Narrow thorax, pectus carinatum, pelvic abnormalities, short stature, thoracic scoliosis Kidneys: No abnormalities Other: Respiratory distress 4 days after birth	Schmidts et al. [5] (patient JATD1); de Vries et al. [4] (patient 4)
	NM_001080463.1:c.1306G > T; NP_001073932.1:p.Glu436* (SCV001548280.1)	ClinVar: Pathogenic CADD score 38	CH, nonsense
DYNC2H1	NM_001080463.1:c.7442G > A; NP_001073932.1:p.Arg2481Gln (SCV001548281.1)	ClinVar: Pathogenic CADD score 24	CH, missense	Skeletal: Narrow thorax, (possible) brachydactyly, pelvic abnormalities, short stature Kidneys: No abnormalities	Schmidts et al. [5] (patient JATD3)
	NM_001080463.1:c.9817C > T; NP_001073932.1:p.Gln3273* (SCV001481983.2)	ClinVar: unknown CADD score 59	CH, nonsense
DYNC2H1	NM_001080463.1:c.9044A > G; NP_001073932.1:p.Asp3015Gly (SCV000027072.3)	ClinVar: Pathogenic CADD score 33	CH, missense	Skeletal: Narrow thorax, brachydactyly, syndactyly of feet, pelvic abnormalities, short stature, thoracic scoliosis Kidneys: No abnormalities	Schmidts et al. [5] (patient JATD2); (de Vries et al. [4] (patient 5)
	NM_001080463.1:c.3459-1G > A; r.spl? (SCV001481984.2)	ClinVar: unknown CADD score 34	CH missense
DYNC2H1	NM_001080463.1:c.7594C > T; NP_001073932.1:p.Arg2532Trp (SCV001548283)	ClinVar: Likely pathogenic CADD score 25	CH, missense	Skeletal: Narrow thorax, short long bones, short stature Kidneys: Renal insufficiency Other: Enlarged liver, respiratory insufficiency, speech problems	Not previously reported
	NM_001080463.1:c.11252A > T; NP_001073932.1:p.Glu3751Val (SCV001481985.2)	ClinVar: unkown CADD score 17	CH, missense
DYNC2H1	NM_001080463.1:c.872G > T; NP_001073932.1:p.Cys291Phe (SCV001481986.2)	ClinVar: unknown CADD score 28	CH, missense	Skeletal: Narrow thorax, polydactyly (feet), syndactyly, short limbs Kidneys: Probably one absent kidney Other: Anhydramnios, lobulated tongue, cleft palate, absent nipples, ambiguous genitalia, cardiac abnormalities	Schmidts et al. [3]
	NM_001080463.1:c.536G > A; NP_001073932.1:p.Trp179* (SCV001481987.2)	ClinVar: unknown CADD score 40	CH, nonsense
	NM_001080463.1:c.10343T > C; NP_001073932.1:p.Leu3448Pro (SCV001548282.1)	ClinVar: Pathogenic CADD score 28	CH, missense

An overview of the patient lines that were used, including the pathogenic variant and type of variant (Combined Annotation Dependent Depletion (CADD) score version GRCh37-v1.6) [28]. Most patient lines were previously described in the indicated references. The coding positions of the variants refer to: NM_001080463.1 (DYNC2H1), NM_052873.2 (IFT43), NM_025132.3 (WDR19), NM_001006657.1 (WDR35). See Supplementary Table 1 for variant accession numbers in accordance with HGVS nomenclature guidelines.

ATD (Jeune) Asphyxiating thoracic dysplasia, CED cranioectodermal dysplasia, CEDL CED-like, CH compound heterozygous, ESRD end-stage renal disease, NPHP nephronophthisis, SRPS short-rib polydactyly syndrome.