Genetics Research

Research Article

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

Table 2

Mutations of the OCRL gene in patients with Lowe syndrome.


Patient ID	Age of onset	Exon	Nucleotide change	Protein change	Result	Segregation	Ocular symptoms	Neurological symptoms	Renal involvements

2011-01 [12]	5Y	18	c.2032C > T	p.R678X	Nonsense	M	CC	DD, MR, epilepsy	LMWP
2011-02 [13]	Fetus	18	c.2046_2047 ins A	p.S683Ifs43	Frameshift	M	Unknown	Unknown	Unknown
2012-03 [14]	11M	15	c.1528C > T	p.Q510X	Nonsense	De novo	CC, CG	DD, MR	FS, PT
2012-04 [15]	9Y	10	c.880G > T	p.G294X	Nonsense	M	cc	DD	LMWP, rickets
2012-05 [15]	26Y	24	c.2626dupA	p.M876AfsX8	Frameshift insertion	M	CC	HY, DD	LMWP, ALP
2012-06 [15]	32Y	24	c.2626dupA	p.M876AfsX8	Frameshift insertion	M	CC	Hy, MR, DD	LMWP
2014-07 [16]	9M	15	c.1499G > A	p.R500Q	Missense	M	CC	DD, MR	LMWP
2015-08 [17]	2Y1M	8	c.562C > T	p.L188F	Missense	M	CC	DD, MR	PT, LMWP
2015-08 [17]	2Y1M	22	c.2464C > T	p.R822X	Nonsense	M
2015-09 [18]	2Y9M	Intron 20	g.46846–46848delTAA/insC	Splicing defect	Unknown	CC	DD, MR	Rickets, LMWP
2015-10 [18]	1Y3M	5	c.321delC	p.F107Ffs30	Frameshift deletion	Unknown	CC	MR	PT, LMWP
2015-11 [19]	3Y	22	c.2367insA	p. A813X	Nonsense	M	CC	DD,Hy	Rickets, LMWP
2016-12 [20]	0.9Y	15	c.1528C > T	p.Q510X	Nonsense	De novo	CC	DD, MR	Rickets, PT, LMWP
2016-13 [20]	5Y	19	c.2187insG	p.E729fsX41	Insertion	M	CC	DD, MR	Rickets, LMWP
2016-14 [20]	5Y	14	c.1366C > T	p.Q456X	Nonsense	De novo	CC	DD, MR	Rickets, LMWP
2016-15 [20]	0.2Y	15	c.1499G > A	p.R500Q	Missense	unknown	CC	DD, MR	LMWP
2016-16 [20]	2Y	22	c.2581G > A	p.del exon 22	Splicing	De novo	CC	DD, MR	LMWP
2016-17 [21]	10M	13	c.1280–1281delTT	p.C428Hisfs2	Frameshift deletion	De novo	CC	DD	LMWP
2016-18 [22]	3Y	18	c.2083C > T	p.R695X	Nonsense	M	CC	DD, MR	Rickets, LMWP
2016-19 [22]	4M	21	c.2441–2442delCT	p. S814fs	Frameshift deletion	M	CC	DD, Hy	AA, LMWP
2017-20 [23]	Fetus		Xq25-26.1del	633kb	Full length deletion	M	CC	Cerebral dysplasia	Unknown
2017-21 [24]	4Y	11	c.953G > T	p.A318L	Missense	De novo	CC	DD	LMWP
2018-22 [25]	2Y5M	15	C.1499G > A	p.R500Q	Missense	M	CC	DD, MR	LMWP
2019-23 [26]	2Y8M	11	c.1000C > T	p.R334Stop	Stop code	M	CC	DD, MR	Rickets, LMWP
2019-24 [26]	2Y5M	18	c.2083C > T	p.R695Stop	Stop code	M	CC	DD, MR	Rickets, LMWP
2019-25 [27]	11M	14	c.1389delT	p.F463Lfs57	Frameshift deletion	M	CC	DD, MR	Rickets, LMWP
2019-26 [28]	6M		Xq25-26.1del	249kb	Full length deletion	Unknown	CC	DD, MR	LMWP
2019-27 [29]	2Y	14	c.1423C > T	p.P475S	Missense	M	CC	Hy, MR, DD	LMWP
2019-28 [29]	2Y	22	c.2464C > T	p. A822X	Nonsense	M	CC	Hy, MR, DD	LMWP
2019-29 [29]	11M	15	c.1502T > G	p. I501S	Missense	M	CC	Hy, MR, DD	LMWP
2019-30 [30]	14Y	21	c.2290_2291delinsCT	p.E764L	Missense	De novo	CC	DD
2019-31 [30]	9Y	21	c.2581G > A	p.A861T	Missense	M	CC	DD
2019-32 [30]	5Y	21	c.2581G > A	p.A861T	Missense	M	CC	DD	LMWP
2019-33 [6]	6Y	21	c.2368_2368delG	p.A790PfsX34	Frameshift deletion	M	CC	DD	LMWP
2019-34 [31]	unknown	IVS20	c.2257-2A > T		Splicing	Unknown	Unknown	Unknown	PT, LMWP
2019-35 [31]	unknown	8	c.659_662delAGGG	p.E220Vfs29	Frameshift	Unknown	Unknown	Unknown	PT, LMWP
2020-36 [32]	1Y6M	5–16	Duplicate	17.9kb		M	CC	DD, MR	LMWP
2020-37 [33]	2.7Y	22	c. 2367_2368insA	p. A790Serfs24	Frameshift insertion	M	CC	DD, MR, Hy	Rickets, PT, LMWP
2020-38 [33]	7.5Y	10	c. 891G > T	p.W297C	Missense	M	Mild CC	Mild MR	Rickets, LMWP
2020-39 [33]	1.3Y	13	c. 1351G > A	p. D451A	Missense	Unknown	CC, CG	DD, MR, Hy	Rickets, PT, LMWP
2020-40 [33]	1.8Y	18	c. 1987C > T	p. R663X	Nonsense	M	CC	DD, MR, Hy	Rickets, LMWP
2020-41 [33]	0.7Y	23	c. 2564_2567del	p. A856Pfs3	Frameshift deletion	M	CC	DD, Hy	LMWP
2020-42 [33]	0.7Y	16	c. 1682_1683insAA	p. F561Lfs6	Frameshift insertion	M	CC, CG	DD, Hy	Rickets, LMWP
2020-43 [34]	9Y	IVS10	c.939+3A > C		Splicing	M	CC	DD,MR	PT, LMWP
2020-44	1Y10M	23	c.2504T > A	p.V835D	Missense	M	CC	DD, MR	LMWP
2020-45	11Y	22	c.2357_2358delCT	p.S786Cfs3	Frameshift deletion	M	CC	DD, MR	LMWP
2020-46	1M9D	13	c.1257delG	p.W419Cfs5	Frameshift deletion	M	CC	DD, Hy	PT, LMWP
2020-47	5M2D	17	c.1762C > T	p.Q588X	Nonsense	M	CC	DD, Hy, MR	PT, LMWP
2020-48	9Y	12	c.1081A > G	p.R361G	Missense	M	CC	MR	LMWP, hypercalciuria

CC, congenital cataract; CG, congenital glaucoma; Hy, hypotonia; DD, developmental delay; MR, mental retardation; FS, Fanconi syndrome; PT, proximal tubulopathy; RF, renal failure; AA, aminoaciduria; LMWP, low-molecular-weight proteinuria. Case from the present study. Segregation: M: the proband’s mother carried the mutation.