Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: FEZF1

I don't know

PMID: 25192046 - 2 families with kallman syndrome, symptoms include absent puberty, micropenis, undescended testis. Families were homozygous for a missense and nonsense.

PMID: 32400067 - heterozygous patient with Kallman and additional variants in other genes

Summary: 2 families only

Created: 15 Jul 2020, 4:27 a.m. | Last Modified: 15 Jul 2020, 4:27 a.m.

Panel Version: 0.3331

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 22, with or without anosmia 616030

Publications

• PMID: 25192046
• 32400067

I don't know

Homozygosity for a missense mutation (H278Y) and a 1-bp deletion (c.651delT) identified in two consanguineous Kurdish families with 2 affected siblings each (only 1 female). A trigenic pattern of variants in PROKR2/CHD7/FEZF1 (c.337T>C in PROKR2, c.748C>G in FEZF1, c.8773G>A in CHD7) has also been identified in a male proband with Kallman syndrome, but they were also present in the unaffected mother. In Fezf1-deficient mice olfactory axons do not penetrate the CNS basal lamina, which is a prominent feature of Kallmann syndrome.

Created: 26 Jun 2020, 7:17 a.m. | Last Modified: 26 Jun 2020, 7:17 a.m.

Panel Version: 0.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 22, with or without anosmia MIM#616030

Publications

• 25192046
• 32400067
• 19479999