Table 1

Clinical and molecular findings in cohort of antenatal cystic kidney disease and ciliopathy phenotypes

A or B	Family	Consanguinity	Outcome	Renal phenotype	Oligohydramnios/anhydramnios	Encephalocele	Other CNS abnormalities	Skeletal/growth malformations	Other defects	Number of other affected fetus/siblings	Segregation and unaffected sib	Gene	Mutation	Remarks and ExAC MAF
A	FT-3	Yes	Fetal death	Cystic		Yes		Polydactyly		0	m,f (1× unaffected sib-het)	B9D1	Homo c.508_510delCTC p.L170del	Novel
A	FT-1	Yes	Fetal death	Enlarged, echogenic with cysts	Yes	Yes		Polydactyly	Cystic hygroma	2	m,f	CC2D2A	Homo c.3084delG p.R1028Rfs*3	Reported30 (MAF=0.00002548)
A	FT-6	Not known	Fetal death	Cystic	Yes		CVA, dilated cisterna magna, corpus callosum agenesis			0	m,f (1× unaffected sib-het)	CC2D2A	Homo c.3364C>T p.P1122S	Reported31
A	FT-8	Yes	Fetal death	Enlarged, echogenic with cysts	Yes	Yes	Corpus callosum agenesis and holoprosencephaly			1	m,f	CC2D2A	Homo c.4531T>C p.W1511R	Reported32
A	FT-14	Yes	Fetal death	Cystic		Yes		Spina bifida		2	m,f	CC2D2A	Homo c.4531T>C p.W1511R	Reported32
A	FT-15	Yes	Fetal death	Cystic		Yes		Intrauterine growth restriction		2	m,f	CC2D2A	Homo c.3084delG p.R1028Rfs*3	Reported30 (MAF=0.00002548)
A	FT-21	Yes	Fetal death	Cystic		Yes		Clubfoot		0	m.f	CC2D2A	Homo c.3084delG p.R1028Rfs*3	Reported30 (MAF=0.00002548)
A	FT-26	Yes	Fetal death	Cystic		Yes			Ascites	2	m	CC2D2A	Homo c.4437+1G>A	Novel
A	FT-7	Not known	Alive at 6 m	Cystic			CVA			0	m,f	CEP290	Homo c.5668G>T p.G1890*	Reported33 (MAF=0.0001432)
A	FT-9	Yes	Perinatal death	Enlarged echogenic	Yes		Ventriculomegaly			1	m,f (unaffected sib –het, unaffected sib –wt)	INVS	*Homo c.1760delA p.Q587Rfs2**	Novel
A	FT-27	Yes	Fetal death	Cystic	Yes	Yes		Clubfoot		1	m	MKS1	Homo c.417+1G>A	Novel
A	FT-5	Yes	Fetal death	Cystic	Yes	Yes				3	m,f	MKS1	Homo c.1066C>T p.Q356*	Novel
A	FT-13	Yes	Fetal death	Cystic		Yes				3	m	MKS1	Homo c.1066C>T p.Q356*	Novel
A	FT-31	Yes	Infant death (8 mo)	Cystic					Congenital heart malformation, lung hypoplasia	0	m,f	PKHD1	Homo c.4870C>T p.R1624W	Reported30 (MAF=0.0001812)
A	FT-33	Yes	Alive at 12 mo	Cystic					Hepatic cysts	0	m,f	PKHD1	Homo c.4870C>T p.R1624W	Reported30 (MAF=0.0001812)
A	FT-34	Yes	Alive at 14 mo	Cystic						0	m,f	PKHD1	Homo c.4870C>T p.R1624W	Reported30 (MAF=0.0001812)
A	FT-19	Yes	Fetal death	Cystic	Yes					3	m,f (1× unaffected sib-het)	RPGRIP1L	Het c.640G>A p.V214I Het c.685G>A p.A229T	V214I Reported34 (V214I, MAF=0.0005292)
A	FT-20	Not known	Perinatal death	Enlarged echogenic	Yes	Yes		Micrognathia		0	m,f	TCTN2	Homo c.1852C>T p.Q618*	Novel
A	FT-10	Yes	Fetal death	Enlarged, echogenic with cysts	Yes			Narrow thorax, dolichocephaly		0	m,f	TMEM67	Homo c.457T>G p.C153G	Novel
A	FT-22	Yes	Fetal death	Enlarged cystic	Yes		CVA, hydrocephalus		Congenital heart malformation, pericardial effusion	2	m,f	TMEM67	Homo c.1413-2A>G	Novel
A	FT-18	Yes	Perinatal death	Cystic	Yes	Yes	Corpus callosum agenesis	Clubfoot	Hepatic cysts	1	m,f	TMEM231	Homo c.751G>A p.V251I	Reported32
A	FT-23	Yes	Fetal death	Increased echogenicity	Yes		CVA, dilated cisterna magna, Dandy–Walker malformation		Pericardial effusion	1			Unsolved
A	FT-28	Yes	Fetal death	Increased echogenicity	Yes		Dandy-Walker malformation	Polydactyly		2			Unsolved
A	FT-4	Yes	Fetal death	Cystic	Yes		CVA, dilated cisterna magna	Narrow thorax	Pericardial effusion	1			Unsolved
A	FT-12	Yes	Fetal death	Increased echogenicity	Yes			Dolichocephaly		2			Unsolved
A	FT-11	Yes	Perinatal death	Cystic	Yes					0			Unsolved
A	FT-17	No	Alive at 36 mo	Cystic			CVA, dilated cisterna magna			0			Unsolved
A	FT-24	Yes	Fetal death	Cystic	Yes			Narrow thorax		0			Unsolved
A	FT-25	Yes	Fetal death	Cystic	Yes					0			Unsolved
A	FT-29	No	Fetal death	Cystic	Yes	Yes				0			Unsolved
A	FT-30	Yes	Fetal death	Cystic	Yes		Ventriculomegaly			1			Unsolved
A	FT-16	Not known	Fetal death	Enlarged kidneys	Yes					0			Unsolved
A	FT-2	Yes	Fetal death	Cystic	Yes		CVA, dilated cisterna magna			3			Unsolved
A	FT-32	Yes	Alive at 20 mo	Cystic	Yes					0			Unsolved
B	FT-35	Yes	Fetal death	Cystic			CVA, dilated cisterna magna			3	m,f	CC2D2A	Presumed homo c.3084delG p.R1028Rfs*3	Reported30 (MAF=0.00002548)
B	FT-40	Yes	Fetal death	Cystic						1	m,f	CEP290	Presumed homo c.3777_3778delAG *p.R1259Sfs16**	Novel
B	FT-43	Yes	Fetal death	Cystic		Yes				2	m,f	MKS1	Presumed homo c.1066C>T p.Q356*	Novel
B	FT-36	Yes	Fetal death	Cystic	Yes		CVA, dilated cisterna magna	Bilateral bowed femurs		0	m,f	NEK8	Presumed homo c.1401G>A p.W467*	Novel (MAF=0.000008237)
B	FT-41	Yes	Fetal death	Cystic					Congenital heart malformation	1	m,f	NPHP3	Presumed homo c.2694-1_-2delAG	Novel (MAF=0.0003553)
B	FT-45	Yes	Fetal death	Cystic	Yes				Hepatomegaly	1	m,f	PKHD1	Presumed homo c.3539G>A p.G1180E	Novel
B	FT-42	Yes	Fetal death	Cystic						2	m,f	TCTN2	Presumed homo c.252_253delTG	Novel
B	FT-37	Yes	Fetal death	Cystic						1			Unsolved
B	FT-38	Yes	Fetal death	Cystic						0			Unsolved
B	FT-44	Yes	Fetal death	Cystic						1			Unsolved

Novel mutations are in bold.
A: samples where DNA from affected and parent(s) was available. B: Samples where maternal and paternal DNA was available and mutation is presumed (with a 25% chance) to be causative.
CVA, cerebellar vermis aplasia; CNS, central nervous system; f, father; het, heterozygous; homo, homozygous; m, mother; MAF, minor allele frequency; mo, month; sib, sibling.