Mitochondrial disease

Gene: SLC25A24

Green List (high evidence)

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

• 29100093
• 29100094
• 29100094
• 31775791
• 32732226
• 32860237

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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 GMS

Created: 20 Mar 2020, 6:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Fontaine progeroid syndrome MIM#612289

Publications

• 29100094
• 29100093