Table 2 Phenotypes of probands with mosaic, CNV, and heterozygous pathogenic variants.
From: Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism
Family | Proband | Gender | Diagnosis | Olfaction | Puberty | Genital phenotypes | Associated phenotypes | Variants | Inheritance |
|---|---|---|---|---|---|---|---|---|---|
113 | S374 | M | CHH | Normal | Absent | Micropenis and bilateral cryptorchidism | Atrial septal defect | FGFR1 p.Leu630Pro PROKR2 p.Asp34Asn | De novo (mosaic) Maternal |
178 | S439 | M | KS | Anosmia | Absent | Micropenis and bilateral cryptorchidism | - | FGFR1 p.Gly348Arg | De novo (mosaic) |
463 | S1247 | F | KS (CHARGE) | Anosmia | Absent | - | Coloboma, semicircular canal hypoplasia, pulmonary artery stenosis | CHD7 p.Arg2428* | De novo (mosaic) |
761 | S1879 | M | CHH | Normal | Partial | - | Mild right ventricular dilation, aortic dilation | CHD7 p.Tyr1325His | Paternal |
151 | S412 | F | KS | Anosmia | Absent | - | Hearing loss, abnormal dentition, low bone mass | FGFR1 p.Gly348Arg IL17RD p.Tyr379Cys | De novo Maternal |
