Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations

Table 1

Mutations of the OCRL gene in patients with Dent-2 disease.

Patient ID	Age of onset	Exon	Nucleotide change	Protein change	Result	Segregation	LMWP	Hypercalciuria	Nephrocalcinosis or nephrolithiasis
2014-01 [35]	6Y	5	c.260delA	p.Q87fs105X	Frameshift deletion	M	√	√	none
2016-02 [36]	3.4Y	22	c.2435T > C	p.L812P	Missense	Unknown	√	√	none
2016-03 [37]	2Y	15	c.1576C > T	p.P526S	Missense	Unknown	√	√	Nephrolithiasis
2016-04 [38]	4Y	22	c.2435T > C	p.L812P	Missense	M	√	√	None
2016-05 [39]	4.4Y	10	c.833_838delTCAAAC	p.E278_D280delinsD	Nonframeshift	M	√	None	None
2016-06 [39]	2.5Y	10	c.833_838delTCAAAC	p.E278_D280delinsD	Nonframeshift	M	√	None	None
2016-07 [39]	1Y	7	c.523del	p.A175Gfs10	Frameshift deletion	M	√	None	None
2016-08 [39]	0.7Y	7	c.523del	p.A175Gfs10	Frameshift deletion	M	√	None	None
2018-09 [40]	9Y	12	c.1062C > A	p.N354K	Missense	De novo	√	√	None
2018-10 [41]	4Y	9	c.812T > C	p.I271T	Missense	De novo	√	√	Nephrocalcinosis
2018-11 [42]	9Y3M	9	c.821T > C	p.I274T	Missense	M	√	√	None
2018-12 [42]	11Y8M	12	c.1112T > C	p.I371T	Missense	M	√	None	None
2018-13 [42]	7Y10M	12	c.1196T > C	p.F399S	Missense	M	√	√	None
2019-14 [43]	3Y	11	c.953G > A	p.R318H	Missense	M	√	√	None
2019-15 [43]	3Y	15	c.1477C > T	p.R493W	Missense	M	√	√	None
2020-16 [6]	2.2Y	14	c.1419C > A	p.F473L	Missense	M	√	√	None
2020-17 [6]	3.33Y	14	c.1430A > G	p.Y477C	Missense	M	√	√	None
2020-18 [6]	10Y	24	c.2670delC	p.F890Ffs19	Frameshift	M	√	√	Nephrolithiasis
2020-19 [6]	5Y	15	c.1514G > T	p.G505V	Missense	M	√	√	None
2020-20 [6]	1.75Y	8	c.697delG	p.E233Nfs17	Frameshift	M	√	None	Nephrocalcinosis
2020-21 [6]	2Y	8	c.614delC	p.T205Tfs45	Frameshift	M	√	√	Nephrocalcinosis
2020-22 [6]	2Y	6	c.430G > T	p.V144F	Missense	M	√	√	None
2020-23 [6]	0.92Y	15	c.1502T > G	p.I501S	Missense	M	√	√	Nephrocalcinosis
2020-24 [6]	2.08Y	22	c.2464C > T	p.R822X	Nonsense	M	√	√	None
2019-25 [44]	5.3Y	15	c.1567G > A	p.D523N	Missense	M	√	√	Nephrolithiasis
2019-26 [44]	3Y	7	c.544delT	p.F182Ffs3	Frameshift deletion	M	√	√	Nephrolithiasis
2019-27 [44]	3.8Y	5	c.310_313del	p.104fs	Missense	M	√	√	Nephrocalcinosis
2020-28 [45]	3.9Y	22	c.2435T > C	p.L812P	Missense	M	√	√	None
2020-29 [45]	7.2Y	12	c.1110C > G	p.C370T	Missense	M	√	√	None
2020-30 [45]	3.8Y	5	c.269G > A	p.T90X	Nonsense	M	√	√	None
2020-31 [46]	9Y	14	c.1400A > T	p.N467I	Missense	M	√	√	None
2020-32	10Y	CLCN5-E6	c.638C > T	p.P213L	Missense	M	√	√	Nephrocalcinosis, hematuria
		OCRL-E2	c.41C > T	p.T14I	Missense	M
2020-33	3Y	11	c.953G > A	p.R318H	Missense	De novo	√	√	Nephrolithiasis
2020-34	1Y1M	18	c.2039T > C	p.F680S	Missense	M	√	√	Nephrocalcinosis
2020-35	2Y	11	c.952C > T	p.R318C	Missense	M	√	√	Hematuria

LMWP, low-molecular-weight-proteinuria; Case from the present study; Segregation: M: the proband’s mother carried the mutation.