A consortium of Spanish clinicians reports the clinical and biological data of a group of patients from the gypsy community diagnosed with autosomal recessive limb-girdle muscular dystrophy (LGMD) linked to the TRAPPC11 gene:
- the same pathological variant (c.1287+5G>A) of the TRAPPC11 gene was identified in the homozygous state in these 25 patients,
- to the picture initially described in this rare form of LGMD (limb-girdle muscle deficit associated with intellectual disability), microcephaly (virtually constant in this cohort), pseudometabolic seizures and epilepsy have now been added,
- mitochondrial abnormalities have also been identified.
These results point to a founder effect of the TRAPPC11 variant in the gypsy population, following the example of other founder effects in this same community.
