Table 1.

Clinical and mutation information for 11 families with NPHS1 mutations detected

Patient number	Origin	Known Consan- guinity	Age of onset	Gender	Renal biopsy	Treatment	Other clinical features	NPHS1 mutationa (Exon: nucleotide change; aminoacid change)		Origin of mutation	Initial phenotype
Homozygous mutations
A3205 II-1	Caucasian	No	53 d	M	DMS	No treatment	none	EX18:c.2491C>T;p.R831C	Lenkkeri et al. 1999	North America	CNS, Finnish type
A3235 II-3	Arabic	Yes	2 mo	F	Not done	No treatment	none	EX2: C.3478 C>T; p.R1160X	Lenkkeri et al. 1999	Italy	CNS, Finnish type
A3236 II-1	Indian Subcontinent	Yes	1 mo	F	Not done	Conservative treatment	none	IVS 7+1 G>T; splice errorb	This study
A3325 II-1	Pakistan	Yes	2 mo	M	Not done	Albumin infusion, Lisinopril	Grand mal seizures; brother 4 y normal.	EX6:c.614-621delinsTT; p.T205,P206,R207>1205	Lenkkeri et al. 1999	Turkey	CNS, Finnish type
A3337 II-3	Arabic	Yes	1 mo	F	Not done	No treatment	Edema at birth, low set ears, depressed nasal bridge, high arched palatet; two deceased brothers (sample not available).	EX2: C.3478 C>T; p.R1160X	Lenkkeri et al. 1999	Italy	CNS, Finnish type
A3416 II-1	Indian Subcontinent	Yes	13 d	M	Not done	No treatment	Premature (34 weeks).	EX2: c.3478 C>T; p.R1160X	Lenkkeri et al. 1999	Italy	CNS, Finnish type
A3442 II-2	Indian Subcontinent	No	1 mo	M	CNF	ND	Microcephaly, aminoaciduria, 3+ glycosuria and acidosis suggesting proximal tubular defect. Died at 6 mo of age, his older sister died at age 3.5 y. Mother had oligohydramnios during pregnancy.	Ex9:c.1099 C>T; p.R367C	Lenkkeri et al. 1999	France	CNS, Finnish type
Compound heterozygous mutations
A3322 II-2	Caucasian	No	no data	M	Not done	No treatment	Degrees of proteinuria, not frank NS, hypothyroidism, hypertension, acidosis.	Ex22: c.2930A>G; p.Y977Cc	This study
								EX27: c.3478 C>T; p.R1160X	Lenkkeri et al. 1999	Italy	CNS, Finnish type
A3322 II-3	Caucasian	No	no data	F	Not done	No treatment	Degrees of proteinuria, not frank NS.	Ex22: c.2930 A>G; p.Y977Cc	This study
								EX27: c.3478 C>T; p R1160X	Lenkkeri et al. 1999	Italy	CNS, Finnish type
A3322 II-4	Caucasian	No	no data	F	Not done	No treatment	Degrees of proteinuria, not frank NS.	Ex22: c.2930 A>G; p.Y977Cc	This study
								EX27: c.3478 C>T; p.R1160X	Lenkkeri et al. 1999	Italy	CNS, Finnish type
A3322 II-5	Caucasian	No	no data	M	Not done	No treatment	Degrees of proteinuria, not frank NS.	Ex22: c.2930 A>G; p.Y977Cc	This study
								EX27: c.3478 C>T; p.R1160X	Lenkkeri et al. 1999	Italy	CNS, Finnish type
A3326 II-1	Hispanic	No	1 mo	F	CNF	No treatment	Unilateral nephrectomy (3/2009) with normal renal function afterwards, left inguinal hernia.	Ex2: c.139delG; p.E46fsX127	Heeringa et al. 2008	Hispanic	Nephrotic syndrome
								Ex13: c.1701 C>A; p.C567X	Beltcheva et al. 2001	Non-Finnish	CNS, Finnish type
Sinqle Heterozygous mutations
A3237 II-1	Caucasian	No	3 d	M	Not done	ND	CNS, born preterm (33+3), unexplained cardiorespiratory arrest day 5.	EX6; c. 644 T>G; p. L215R	This study
A3319 II-1d	Turkish	No	42 d	F	Glomerular mesangial proliferation	SRNS	none	Ex 15: c.2014 G>A; p.A672T	Machuca et al. 2010	France	CNS, Finnish type

CNS = congenital nephrotic syndrome; CSA = cyclosporin-A; d = days; DMS = diffuse mesangial sclerosis; Ex = exon; F = female; FSGS = focal segmental glomerulosclerosis; M = male; mo = months; MPGN = mesangial proliferative glomerulonephritis; ND = No data; NS = nephrotic syndrome; SRNS = steroid resistant nephrotic syndrome; SSNS = steroid sensitive nephrotic syndrome; y = years.

^aAll novel mutations were absent from 96 Turkish control individuals and from the 1,000 genomes project (http://www.1000genomes.org). Novel mutations are printed in bold. Novel missense mutations were conserved through evolution at least down to Danio rerio. RefSeq NM_004646 was used as relevant wild type gene sequence for human NPHS1.

^bThe novel mutation is shown to be segregating from mother and father.

^cThe novel mutation is shown to be segregating from father and the known mutation from mother.

^dA3319 II-1 also has a single heterozygous mutation in NPHS2 Ex5: c.729G>C; p.E273Q.