Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene

Table 1 Clinical and molecular data of reported patients

Patient	Gender	Age	Hematuria	Proteinuria	Renal Function	Hearing loss	Ocular lessions	COL4A3 Mutations
IV.1	M	58	Yes	1.08 g/24 h	Normal	Yes	No	c.998G > A; p.G333E
IV.2	F	56	No	No	Normal	No	No	c.C4382T; p.P1461L
IV.3	M	62	Yes	No	Normal	No data	No data	c.998G > A; p.G333E
IV.4	F	66	No	No	Normal	No	No data	c.A4474T; p.S1492C
IV.6	F	57	No	No	Normal	Yes	No data	N.D.
IV.7	M	54	Yes	1.26 g/24 h	Normal	Yes	No	c.998G > A; p.G333E
IV.9	M	47	Yes	No	Normal	No data	No data	c.998G > A; p.G333E
IV.12	F	50	No	No	Normal	No	No	N.D.
IV.19	F	56	Yes	>3.5 g/24 h	CRF-dialisis	Yes	No	c.998G > A; p.G333E
IV.21	F	53	Yes	0.9 g/24 h	Normal	Yes	No	c.998G > A; p.G333E
V.1	M	31	Yes	>3.5 g/24 h	CRF-renal transplant	Yes	No	c.998G > A; p.G333E + c.C4382T; p.P1461L
V.2	F	27	Yes	No	Normal	No	No	c.998G > A; p.G333E
V.3	M	34	Yes	>3.5 g/24 h	CRF-renal transplant	Yes	No	c.998G > A; p.G333E + c.A4474T; p.S1492C
V.4	M	32	Yes	>3.5 g/24 h	Nephrotic Syndrome	Yes	No	c.998G > A; p.G333E + c.A4474T; p.S1492C
V.5	F	25	No	No	Normal	No data	No data	N.D.
V.10	M	27	Yes	No	Normal	No	No	c.998G > A; p.G333E
V.11	M	34	No	No	Normal	No	No	N.D.
V.14	M	25	Yes	No	Normal	No data	No	c.998G > A; p.G333E
V.16	M	26	Yes	0.35 g/24 h	Normal	Yes	No data	c.998G > A; p.G333E

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