Amelogenesis imperfecta

Gene: SLC13A5

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P for Epileptic encephalopathy, early infantile, 25 615905 (not relevant to this panel. At least 8variants reported in 7 cases of Kohlschütter-Tönz syndrome, with appropriate dental features.

Created: 8 Jan 2018, 12:33 p.m.

Green List (high evidence)

Biallelic mutations in SLC13A5 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 8 variants in SLC13A5 have been reported to date in KTS with additional variants reported in patients with a diagnosis of autosomal-recessive early infantile epileptic encephalopathy (EIEE25, OMIM 615905) who also display variable teeth hypoplasia and/or hypodontia.

Created: 17 Nov 2017, 1:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
amelogenesis imperfecta (hypoplastic); Kohlschütter-Tönz syndrome; Epileptic encephalopathy, early infantile, 25 OMIM 615905

Publications

• PMID: 27600704
• 26384929
• 24995870
• 27261973

Kohlschütter-Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis imperfecta (AI). It is frequently caused by biallelic mutations in ROGDI but PMID:27600704 (2017) report on KTZS individuals carrying biallelic SLC13A5 mutations.

Created: 12 Jun 2017, 9:10 a.m.