Albinism or congenital nystagmus

Gene: DCT

Green List (high evidence)

DCT variants have been associated with Oculocutaneous albinism, type VIII (OMIM:619165). At least six DCT variants have been identified in four unrelated cases of OMIM:619165 (PMID: 33100333;33959807). Examination of the patients carrying DCT variants, it became apparent that they had phenotypic spectrum ranging from isolated infantile nystagmus to oculocutaneous albinism. Functional studies showed that the variants resulted in loss of function and a mouse model had a hypopigmented coat, together with hypopigmentation of the retinal pigmented epithelium (RPE), thereby indicating that defective RPE melanogenesis could be associated with eye and vision defects (PMID: 33100333;33959807).

Created: 1 Oct 2024, 4:22 p.m. | Last Modified: 1 Oct 2024, 4:22 p.m.

Panel Version: 3.8

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 4:42 p.m. | Last Modified: 3 Mar 2022, 4:42 p.m.

Panel Version: 1.22

Comment on list classification: New gene added by Simon Ramsden (NHS). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 33100333 describes 2 unrelated patients with variants in DCT. Both patients had mild hair and skin hypopigmentation, and classical ocular features. The paper also describes a mouse model and zebrafish model which replicate the human phenotype.

There is enough evidence to support a gene-disease associaton. Therefore, this gene should be promoted to Green status at the next review.

Created: 26 Jan 2021, 11:03 a.m. | Last Modified: 26 Jan 2021, 11:03 a.m.

Panel Version: 1.17

Green List (high evidence)

This is a newly described gene that should be considered for inclusion in the Albinism panel
Sources: NHS GMS

Created: 25 Jan 2021, 4:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ocutaneous albinism

Publications

• PMID 33100333