NPHS2variation in focal and segmental glomerulosclerosis

BMC Nephrology

Table 2 Clinical characteristics of patients with homozygous and compound heterozygous non-synonymous NPHS2 variants

Proband screened	Ethnicity	Homozygous or Compound heterozygous	Previously published as disease causing	Affected family members	Age of onset (years)	Response to immunosuppressive treatment	Tx/ Recurrence
FG-HU-11^S	Sri-Lanken	p.V127W/p.V127W	No	FG-HU-11	4	NA	NA
FG-FW-12 F	Caucasian	p.R138Q/p.R138Q	[8, 12–15, 17, 18]	FG-FW-12 FG-FW-11 FG-FW-13 FG-FW-14	4 8 4 2	No No No No	Yes/No Yes/No Yes/No No
FG-HN-11^F	Caucasian	p.R138Q/p.Q215X	No	FG-HN-11 FG-HN-111	8 1.08	No No	Yes/No No
FG-EJ-2112^F	Caucasian	p.R138Q/p.R229Q	[6]	FG-EJ-2112 FG-EJ-2115 FG-EJ-2116	5 3 3	NA No No	No Yes/Yes Yes/Yes
FG-IV-11^F*	Caucasian/Lebanese	p.V180M/p.V180M	[12]	FG-IV-11 FG-IV-12	14 17	Partial NA	No NA
UNC-530^S	NA	p.R229Q/p.R10T	No	UNC-530	18	NA	NA
CPMC-93^S	Caucasian	p.R229Q/p.L270F	No	CPMC-93	38	Partial	NA
FG-HP-11^S	Hispanic	p.R229Q/p.A284V	[8, 15, 17, 19]	FG-HP-11 FG-HP-12	17 NA	No No	No Yes/No
CPMC-2^S	Hispanic	p.R229Q/p.A284V	[8, 15, 17, 19]	CPMC-2	21	NA	NA
CPMC-6^S	Caucasian	p.R229Q/p.A284V	[8, 15, 17, 19]	CPMC-6	27	NA	NA
ST-11^S	Caucasian	p.R229Q/p.L327F	[6]	ST-11	3	No	NA
CPMC-28^S	Caucasian	397delA/855/6delAA	No	CPMC-28	27	No	NA

F; individual with at least one other affected family member with FSGS or proteinuria, F*; individual with at least one other affected family member from a consanguineous marriage with FSGS or proteinuria, S; patient without a family history of FSGS NA; data not available.

ISSN: 1471-2369