A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24

Abstract

We report the clinical and genetic findings in a 15‐year‐old Spanish boy presenting prenatal and postnatal growth retardation, reduced subcutaneous adipose tissue, premature skin wrinkling, sparse hair, short distal phalanges with small nails, umbilical hernia, wide anterior fontanel, and normal cognitive and motor development. Exome sequencing uncovered a heterozygous mutation in SLC25A24 (NM_013386: c.650G>A: p.R217H) that encodes for the calcium‐binding mitochondrial carrier protein SCaMC‐1. This gain‐of‐function variant has been previously associated with Fontaine syndrome and Gorlin‐Chaudhry‐Moss syndrome, two entities that show overlapping features, and have been recently subsumed under the name Fontaine progeroid syndrome (FPS; MIM: 612289) in OMIM. Here, we describe the first male patient with genetically confirmed FPS who survives at least until adolescence.