Amelogenesis imperfecta

Gene: ROGDI

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 8 variants reported in at least 7 unrelated cases.

Created: 8 Jan 2018, 11:47 a.m.

Green List (high evidence)

This gene is currently on the Leeds AI diagnostic gene panel. This is available for NHS testing via Yorkshire Regional Genetics Service.

Biallelic mutations in ROGDI cause Kohlschütter-Tönz syndrome, which includes epilepsy (usually starts in the first year of life and is often difficult to treat). The most severely affected individuals have profound intellectual disability, never acquire speech and become bedridden early in life. Clinical and laboratory signs are not specific in the disease, except for dental findings; therefore, the latter are essential for the clinical diagnosis of KTZS. All affected individuals show variable yellow-to-brown discolouration of primary as well as permanent teeth right from eruption.

At least 12 variants in ROGDI have been reported to date. These include a whole gene deletion, splice site variants, missense and nonsense variants.

Created: 17 Nov 2017, 10:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
amelogenesis imperfecta (hypocalcified); Kohlschütter-Tönz syndrome

Publications

• PMID:23086778
• 25565929
• 22424600
• 22482807
• 28651123

Kohlschutter-Tonz syndrome is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta.

Created: 12 Jun 2017, 9:09 a.m.