Until now, dysferlin deficiencies reported in human pathology have all been inherited in the autosomal recessive mode. A few heterozygous individuals have been reported with slightly elevated CPK blood levels. Australian and British researchers found a large family with autosomal dominant inheritance.
- There was no particular family consanguinity to explain possible pseudodominance.
- Genetic analysis found only one pathogenic variant c.6207del p. (Tyr2070Metfs*4) despite an extensive search for a second variant, including whole-genome sequencing.
- Depending on the patient, the picture consisted of a chronic elevation of CPK or a slowly progressive proximal deficit of late onset.
Such an observation, if confirmed by other work, could make genetic counseling more difficult in families with dysferlinopathy.
