Amelogenesis imperfecta
Gene: SLC10A7Comment on list classification: Upgrading to green as the are now 6 distinct families with identified variants in SLC10A7 and a relevant phenotype. Evidence also from zebrafish and mouse models.Created: 15 May 2019, 1:29 p.m.
Associated with Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 in OMIM.
PMID: 29878199 - Ashikov et al 2018 - sib pair (P17, P33) with compound heterozgyosity for variants in SLC10A7. Two other patients (P32 and P39) with similar glycomics data of total plasma proteins were found to have no SLC10A7 expression but no genetic variant of possible pathogenicity were found in these patients. Patients with SLC10A7 deficiency share an overlapping clinical phenotype, characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual development. The patients’ phenotype was mirrored in SLC10A7 deficient zebrafish.
PMID: 30082715 - Dubail et al 2018 - by exome sequencing identified homozygous mutations in SLC10A7 in six individuals from 4 unrelated families (consangineous parents, Turkey and Iran), and 2 distantly related families (Netherlands) with skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. A Slc10a7-/- mouse model, which displays shortened long bones, growth plate disorganization and tooth enamel anomalies, recapitulating the human phenotype.Created: 15 May 2019, 1:26 p.m.
Two papers have reported biallelic SLC10A7 variants in ten unrelated families in total, all with biallelic SLC10A7 mutations and a SSASKS phenotype: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (PMID: 29878199, 30082715). More variable features were noted as facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development. Murine models recapitulate the human phenotype with shortened long bones, growth plate disorganization and tooth enamel anomalies (PMID: 30082715). SLC10A7 deficient zebrafish showed a strong reduction in bone mineralization (PMID: 29878199). This gene should be considered for diagnostic analysis when AI is accompanied by growth and bone defects. Note that no non-syndromic patients have been reported to date (May 2019) with AI in isolation with variants in this gene.Created: 13 May 2019, 12:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM: 618363 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS); short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; scoliosis
Publications
PMID: 30082715 reports five different SLC10A7 variants in four patients from four unrelated families and two patients from two distantly related families. The study states that the variants segregated according to a recessive mode of inheritance, however the genotype was not shown on the pedigree diagram. Further evidence was provided in a knockout mouse model that displayed abnormal development of skeletal structures and teeth anomalies. This gene is not related to a disease in OMIM or Gene2Phenotype.
Sources: LiteratureCreated: 11 Oct 2018, 12:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
skeletal dysplasia and amelogenesis imperfecta
Publications
Phenotypes for gene: SLC10A7 were changed from skeletal dysplasia and amelogenesis imperfecta to skeletal dysplasia and amelogenesis imperfecta; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363; short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; scoliosis
Publications for gene: SLC10A7 were set to 30082715
Gene: slc10a7 has been classified as Green List (High Evidence).
gene: SLC10A7 was added gene: SLC10A7 was added to Amelogenesis Imperfecta. Sources: Literature Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 30082715 Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta