Autosomal recessive limb-grade and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients.

A nonsense variant in the STKLD1 causing pre-axial polydactyly type A

Distribution of the patients according to the sequencing strategies performed. ES or CNVseq together with proband only or family trios was used to divide the patients into six groups.

Overview of individual copy number abnormalities on each chromosome arm as detected by LD-WGS. F: Copy number abnormality also detected by FISH. *Two non-overlapping deletions detected by LD-WGS on 17p.

We report five patients with non-progressive congenital ataxia and psychomotor delay, four of five harboring novel heterozygous missense variants in SPTBN2 and one patient with compound heterozygous SPTBN2 variants. With an overall prevalence of 5% in our cohort, the present study indicates that both dominant and recessive mutations of SPTBN2 are a frequent cause of early-onset/congenital non-progressive ataxia.

Flow chart of our study. IPN, inherited peripheral neuropathy; dHMN, distal hereditary motor neuropathy; CMT1: demyelinating Charcot-Marie-Tooth disease; CMT2, axonal Charcot-Marie-Tooth disease; ACMG, American College of Medical Genetics and Genomics.