A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis

Table 1 Clinical features at presentation

Family member ID	Age	Sex	Presentation	Age of presentation	Serum calcium (Reference range 2.2-2.55 mmol/l)	Serum magnesium (Reference range 0.7-1.05 mmol/l)	25 (OH) vitamin D level (Reference range 75-250 mmol/l)	Hypercalciuria	Hypocitraturia	Nephrocalcinosis	Renal stone	GFR mls/min/1.73 m²	Genotype
I:1	45	F		-	2.43	0.8	N/A	Yes	N/A	No	No	-	Het
I:2	48	M		-	2.40	N/A	N/A	No	N/A	No	No	-	Het
II:1	26	M	Macroscopic haematuria	20 years	2.11	0.52	35.1	Yes	Yes	Yes	Yes	48	Homo
II:2	25	M	Recurrent UTI, microscopic haematuria	20 years	2.10	0.60	N/A	Yes	Yes	Yes	No	37	Homo
II:3	24	M	Loin pain, passed a stone	17 years	2.13	0.59	29.4	Yes	N/A	Yes	Yes	67	Homo
II:4	23	M	Recurrent UTI, microscopic haematuria	17 years	2.25	0.85	21.3	No	N/A	No	No	126	Het
II:6	22	M	Recurrent UTI, microscopic haematuria	16 years	2.08	0.45	N/A	No	Yes	Yes	No	37	Homo
II:8	12	F	Loin pain	7 years	2.09	0.47	35.2	No	Yes	Yes	No	36	Homo
II:11	3	F	Haematuria	17 months	2.40	0.76	61.0	No	N/A	Yes	No	N/A	Homo

F, female; GFR, glomerular filtration rate; Het, heterozygous mutation; Homo, homozygous mutation; M, male; N/A, not available; UTI, urinary tract infection.

ISSN: 1756-0500