Table 1.

Clinical and molecular data of eight JSRD families with biallelic TMEM67 mutations

Family data				Clinical data					Genetic data
Family		Age (sex)	Origin	CNS	Eye	kidney	liver	other	Nucleotide changes	Exon	Effects on protein	Tr
COR47	NG 1604	8(M)	IT	MT EV	Co	- (8)	ELE		c.370G>A	3	p.E124K +	P
	NG 2001	4(F)		MTS	ONH	- (4)	ELE		c.1073C>T	11	p.P358L +++	M
COR113	NG 2016	3(M)	IT	MTS	Co(L)	- (3)	LI		c.1706G>A	17	p.G569D ++	P
									c.G1860+1G>A	18	Splice	M
COR143	NG 2038	1(F)*	SW	MTS	Co	UCD	ELE		c.1285C>T	12	p.Q429X	M
									c.1847C>T	18	p.A616V +	P
COR212	NG 2358	15(F)	IT	MTS	Co	cysts, CRI (6m)	HSM ELE		c.1115C>A	11	p.T372K ++	M
									c.2216T>G	21	p.L739R ++	P
COR240	NG 2367	5(M)	IT	MTS	-	- (5)	HSM ELE LI		c.1077_1078	11	p.T360RfsX18	M
									c.1769T>C	17	p.F590S ++	P
COR265	NG 2511	23(M)	IT	MTS	Co(L)	- (23)	CHF	PD(4)	c.270T>G	2	p.N90K ++	M
									c.755T>C	8	p.M252T +++	P
COR266	NG 2515	4(F)	GE	MTS	Co	- (2)	CHF		c.300C>A	2	p.C100X	M
									c.2498T>C	24	p.I833T ++	P
COR254	NG 2466	8(M)	GE	MTS	-	- (8)	ELE		c.903C>G	9	p.D301E +	M
									c.1538A>G	15	p.Y513C+++	P

CHF: congenital hepatic fibrosis; Co: chorioretinal colobomas; CRI: chronic renal insufficiency; ELE: elevated liver enzymes; EV: enlarged ventricles; HSM: hepatosplenomegaly; IUGR: intrauterine growth retardation; (L): left eye only; LI: liver imaging consistent with ductal plate malformation; M: maternal; MTS: molar tooth sign; ONH: optic nerve hypoplasia; P: paternal; PD: polydactyly (number of limbs); Tr: transmission; UCD: urinary concentration defect. Origin: IT: Italy; SW: Sweden; GE: Germany.

^*One pregnancy terminated for prenatal diagnosis of JSRD. PolyPhen prediction: benign:

⁺possibly damaging:

⁺⁺probably damaging:

⁺⁺⁺Novel mutations are in bold.