Ichthyosis

Gene: SREBF1

Green List (high evidence)

HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses.

Created: 17 Oct 2020, 8:47 p.m. | Last Modified: 17 Oct 2020, 8:47 p.m.

Panel Version: 0.98

IFAP phenotype: 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. 3 different msisense variants identified affecting the same region (residues 527, 528, and 530). Functional studies support impaired function (impaired nuclear translocation of the transcriptionally active form of SREBP1 resulting in lower expression of the SREBP1 variants). Increased keratinocyte apoptosis was observed in patient scalp samples.
Sources: Literature

Created: 6 Jul 2020, 7:06 a.m. | Last Modified: 17 Oct 2020, 8:47 p.m.

Panel Version: 0.98

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016; Mucoepithelial dysplasia, hereditary, MIM#158310

Publications

• 32497488
• 31790666
• 32902915