Mitochondrial disease
Gene: SLC25A24
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fontaine progeroid syndrome, MIM# 612289
Eleven individuals described, most ascertained in the fetal or newborn period. All with de-novo mutations in SLC25A24, recurrently either c.650G>A (p.Arg217His) or c.649C>T (p.Arg217Cys).
Main clinical features such as pre- and postnatal growth retardation, skin wrinkling, lipodystrophy, and small distal phalanges of the fingers and toes. The typical triangular facial appearance is characterized by microphthalmia, midface hypoplasia, narrow forehead, depressed nasal bridge, and low hairline. Furthermore, Fontaine progeroid syndrome is associated with coronal craniosynostosis, cardiovascular abnormalities, hypertrichosis, hypoplastic external genitalia, and umbilical hernia.Created: 6 Jan 2022, 4:49 a.m. | Last Modified: 6 Jan 2022, 4:49 a.m.
Panel Version: 0.10527
Phenotypes
Fontaine progeroid syndrome, MIM#612289
Publications
Variants in this GENE are reported as part of current diagnostic practice
De novo heterozygous variants (R217H, R217C) were identified in 9 unrelated cases. Functional analysis demonstrated that the variants affect mitochondrial morphology, and also suggested an impact on oxidative phosphorylation via decreased ATP synthesis and an increase in the mitochondrial membrane potential, thus creating conditions that are inhospitable to cell proliferation.
Sources: NHS GMSCreated: 20 Mar 2020, 6:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fontaine progeroid syndrome MIM#612289
Publications
Gene: slc25a24 has been classified as Green List (High Evidence).
Gene: slc25a24 has been classified as Green List (High Evidence).
gene: SLC25A24 was added gene: SLC25A24 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A24 were set to 29100094; 29100093 Phenotypes for gene: SLC25A24 were set to Fontaine progeroid syndrome MIM#612289 Review for gene: SLC25A24 was set to GREEN