Background and purposeBiallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot–Marie–Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) resulting in lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD‐related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants.MethodsPatients followed at neuromuscular reference centres in France and Switzerland were ascertained. Sanger sequencing and next generation sequencing were performed to sequence SORD, and mass spectrometry was used to measure patients' serum sorbitol.ResultsThirty patients had SORD peripheral neuropathy associating LL weakness with muscular atrophy, foot deformities (87%), and sometimes proximal LL weakness (20%) or distal upper limb weakness (50%). Eighteen had dHMN, nine had CMT2, and three had intermediate CMT. Most of them had a mild or moderate disease severity. Sixteen carried a homozygous c.757delG (p.Ala253Glnfs*27) variant, and 11 carried compound heterozygous variants, among which four variants were not yet reported: c.403C > G, c.379G > A, c.68_100 + 1dup, and c.850dup. Two unrelated patients with different origins carried a homozygous c.458C > A variant, and one patient carried a new homozygous c.786 + 5G > A variant. Mean serum sorbitol levels were 17.01 mg/L ± 8.9 SD for patients carrying SORD variants.ConclusionsThis SORD‐inherited peripheral neuropathy cohort of 30 patients showed homogeneous clinical presentation and systematically elevated sorbitol levels (22‐fold) compared to controls, with both diagnostic and potential therapeutic implications.

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This article discusses the issue of inconsistency in responses from various DL-Lite knowledge bases. This inconsistency problem is at the origin of several sources of assertions with different levels of reliability. The various solutions proposed in the literature that have to do with retrieving an exhaustive and coherent list of responses are not satisfactory from the point of view of reliability and performance. The solution that we present to solve this problem is articulated around two phases: the first phase consists of interrogating the different knowledge bases to retrieve all of the possible answers, which may be inconsistent and/or contradictory, and the second phase consists in repairing these inconsistencies and/or contradictions. To do this, we propose an approach based on three algorithms that we developed in this framework: a first algorithm for non-defeat repair, a second algorithm for lexicographic repair and a third algorithm for non-defeat repair based on lexicography of possible inconsistent responses. The experimental study carried out on the different data collections, as well as the analysis of the results obtained, confirm the performance of our approach as well as its efficiency in regards to productivity and complexity in terms of execution time.

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