Australian geneticists and clinicians report on the value of the so-called ‘long-length sequencing’ technique for searching for mutations in the SORD gene. The SORD gene is responsible for one of the most common forms of autosomal recessive axonal Charcot-Marie-Tooth disease (CMT2-AR). This shows that :
- the reading of longer sequences avoids interpretation errors linked to the existence of a pseudogene called SORD2P whose variations are not pathological,
- a case of CMT linked to SORD was identified in this way in a cohort of CMT patients studied so far in exome, and was confirmed by biochemical assays (elevated sorbitol),
- its phenotype also included an ulnar neuropathy.
