Journal of Oncology

Research Article

The Clinical and Genetic Characteristics in Children with Idiopathic Hypogonadotropin Hypogonadism

Table 3

Genetic analysis of 14 children with IHH.


Case	Gene	Variant	Novel	Amino acid	Pathogenicity^b	Inheritance	Source of variant	MAF (%)	Polyphen-2	SIFT	PROVEAN

KS1	CHD7	c.2442+1G>A	Yes	/	Likely pathogenic	AD, Het	De novo	No	/	/	/
KS2	CHD7	c.2744A>G	Yes	p.D915G	Uncertain	AD, Het	Paternal	No	0.991	0.001	5.7
KS3	CHD7	c.409T>G	No	p.S137A	Likely benign	AD, Het	Paternal	0.020	0.002	0.19	0.62
KS4	CHD7	c.2698-1G>T	Yes	/	Pathogenic	AD, Het	Paternal	No	/	/	/
KS5	CHD7	c.2724G>T	Yes	p.W908C	Uncertain	AD, Het	Maternal	No	1	0.00	12.43
KS6	NDNF	c.1439T>A	Yes	p.I480N	Uncertain	AD, Het	Paternal	No	0.963	0.002	5.23
nIHH1	CHD7	c.749G>A	No	p.R250H	Uncertain	AD, Het	Paternal	0.006471	0.999	0.011	0.76
	CHD7	c.1565G>T	No	p.G522V	Likely benign	AD, Het	Paternal	0.619	0.099	0.05	0.47
	ANOS1^a	GRCh38/hg38:chrX:(8528874-8732137)dup			Uncertain	XLR	De novo	No
nIHH2	CHD7	c.1565G>T	No	p.G522V	Likely benign	AD, Het	Maternal	0.619	0.099	0.05	0.47
nIHH3	CHD7	c.59G>A	No	p.G20D	Uncertain	AD, Het	Maternal	0.001057	0.916	0.285	0.44
nIHH4	CHD7	c.2182G>A	No	p.D728N	Uncertain	AD, Het	Paternal	0.01164	0.155	0.011	2.34
nIHH5	FGFR1	c.1271G>A	Yes	p.R424H	Uncertain	AD, Het	Paternal	No	0.060	0.041	2.51
nIHH5	SEMA3A	c.1369A>G	No	p.T457A	Uncertain	AD, Het	Maternal	No	0.789	0.005	3.58
nIHH6	FGF8	c.368G>A	Yes	p.G123E	Uncertain	AD, Het	Maternal	No	0.974	0.000	4.99
nIHH7	PROKR2	c.891-892insA	Yes	p.R298Tfs2	Likely pathogenic	AD, Het	Paternal	No	/	/	/
nIHH8	CHD7	c.4153G>C	Yes	p.D1385H	Uncertain	AD, Het	De novo	No	1	0.000	6.71

a: represents copy number variation, and represents variant if no hint is given. Uncertain is recorded after checking two databases; b: records after checking according to hospital laboratory report and multiple databases. SIFT score: Less than 0.05 is expected to be Deleterious, greater than or equal to 0.05 is expected to be Tolerated. Polyphen-2 score: If the score is between 0.909 and 1, it is Probably damaging;Scores between 0.447 and 0.908 are "potentially Damaging", while 0 and 0.447 are Benign. PROVEAN score: Less than -2.5 is expected to be Deleterious, more than -2.5 is expected to be Neutral AD: autosomal dominant,Het: heterozygous, XLR: X-linked recessive.