Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center

Table 2 Clinical and genetic characteristics of the tested patients with CHH with seven of them harboring novel mutations

Patient ID	Sex	Phenotype	Gene	Genotype	Inheritance	MAF (%) – gnomAD v2.1.1	Variant Classification	Previously described
1	M	CHH	ANOS1	p.Gln82*	X-linked	Absent	Pathogenic	-
2	M	KS	WDR11	p.Leu244Pro/WT	AD	Absent	Probably Pathogenic	-
3	M	CHH	SRA1	p.Ile179Thr/WT	AR	0.00081	Probably Pathogenic	[49, 52]
3	M	CHH	RNF216	p.Asp792Asn/WT	AR	Absent	Probably Pathogenic	-
4	M	CHH	CHD7	p.Arg2400Trp/WT	AD	0.0000154	Probably Pathogenic	-
5	M	CHH	FGFR1	p.Pro186Ala/WT	AD	Absent	Probably Pathogenic	-
5	M	CHH	POLR3A	p.Arg561Gly/WT	AR	Absent	Probably Pathogenic	-
6	M	CHH	FGFR1	p.Arg822Cys/WT	AD	0.00026	Probably Pathogenic	[50]
7	F	CHH	SRA1	p.Ile179Thr/p.Ile179Thr	AR	0.00081	Probably Pathogenic	[49, 52]
8	F	Delayed Puberty	IGSF10	p.Val1420Met	AD	0.000035	Probably Pathogenic

ISSN: 1750-1172