Table 3.

Genetic and clinical characteristics of staghorn calculi formers

ID	Type	Mutant Allele Type	DNA Variant and Predicted Protein Description	Sex	Age (yr) at First Stone	Stones per Year Since First Stone	eGFR (ml/min per 1.73 m2)
14	AA	Com het	c.[1400T>C]; [exons 5–9 dup]	M	2	0.32	88.5
			p.[Met467Thr]; [exons 5–9 dup]
16	AA	Com het	c.[1400T>C]; [exons 5–9 dup]	W	48	0.67	>90
			p.[Met467Thr]; [exons 5–9 dup]
19	AA	Hom	c.[1400T>C]; [1400T>C]	W	16	0.13	62.2
			p.[Met467Thr]; [Met467Thr]
55 F4	A	Het	c.[exons 5–9dup]; [=]	W	13	0.11	65.1
30	BB	Com het	c.[368C>T] ; [671C>T]	M	42	0.88	>90
			p.[Thr123Met]; [Ala224Val]
32	BB	Com het	c.[414_415delGC]; [exon 12 del]	M	17	2.62	80.9
			p.[Pro139Leufs*69]; [exon 12 del]
37	BB	Hom	c.[614dupA]; [614dupA]	W	16	0.44	49.8
			p.[Asn206Glufs*3]; [Asn206Glufs*3]
38	BB	Hom	c.[614dupA]; [614dupA]	M	41	0.09	18
			p.[Asn206Glufs*3]; [Asn206Glufs*3]
41 F3	BB	Com het	c.[614dupA]; [exon 12 del]	W	10	1.6	27
			p.[Asn206Glufs*3]; [exon 12 del]
43	BB	Com het	c.[671C>T]; [997C>T]	W	4	4.47	50
			p.[Ala224Val]; [Arg333Trp]
46	BB	Com het	c.[1399+4_1399+7del]; [exon 12del]	M	17	2	>90
50	BBB	Com het + Hom	c.[544G>A;1060G>A]; [544G>A]	W	47	0.73	83.4
			p.[Ala182Thr;Ala354Thr]; [Ala182Thr]
66	B	Het	c.[671C>T]; [=]	M	40	0.09	39.2
			p.[Ala224Val]; [=]
69	B	Het	c.[671C>T]; [=]	M	5	0.06	52.6
			p.[Ala224Val]; [=]
72	B	Het	c.[exon 12 del]; [=]	M	24	?	ESRD (transplant)

ID, identification; F4, family 4; F3, family 3; Com het, compound heterozygote (two different mutations detected—one in each allele); Hom, homozygous (both alleles in the same mutation); Het, heterozygote (single mutated allele detected); M, man; W, woman.