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 DNAmacromolécule complexe, l’ADN est le support de l’hérédité (gènes). C’est le constituant des chromosomes. L’ADN est organisé en double hélice (deux brins complémentaires) et constitué de nucléotides de quatre types : adénine, guanine, cytosine et thymine. 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.