Congenital myopathy linked to the STAC3 gene is a frequent cause of early hypotonia in South Africa

South African researchers report the clinical and biological data from a cohort of 127 young children with congenital hypotonia:

• they had been previously excluded for SMA and Prader-Willi syndrome,
• the homozygous variant identified in STAC3 by high-throughput DNA sequencing in 31 children is the same as that found in patients from Africa,
• additional haplotyping studies point to a founder effect from southern Africa,
• the muscular and malformative phenotype was largely superimposed on that described in the literature.

 

STAC3 disorder: a common cause of congenital hypotonia in Southern African patients. Essop F, Dillon B, Mhlongo F et al. Eur J Hum Genet. 2024 Jun 1.