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SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.
Arlt, Annabelle; Akova-Öztürk, Esra; Schirmacher, Anja; Schlüter, Bernhard; Rust, Stephan; Meyer Zu Hörste, Gerd; Wiendl, Heinz; Wiethoff, Sarah.
Afiliación
  • Arlt A; Institute of Human Genetics, University of Münster, Münster, Germany.
  • Akova-Öztürk E; Department of Neurology with Institute of Translational Neurology, University of Münster, Münster, Germany.
  • Schirmacher A; Department of Neurology with Institute of Translational Neurology, University of Münster, Münster, Germany.
  • Schlüter B; UKM Laboratory, University of Münster, Münster, Germany.
  • Rust S; UKM Laboratory, University of Münster, Münster, Germany.
  • Meyer Zu Hörste G; UKM Laboratory, University of Münster, Münster, Germany.
  • Wiendl H; Department of General Pediatrics, University of Münster, Münster, Germany.
  • Wiethoff S; Department of Neurology with Institute of Translational Neurology, University of Münster, Münster, Germany.
J Neurogenet ; 38(2): 35-40, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38975976
ABSTRACT
Pathogenic, biallelic variants in SORD were identified in 2020 as a novel cause for autosomal-recessive Charcot-Marie-Tooth disease (CMT) type 2, an inherited neuropathy. SORD codes for the enzyme sorbitol dehydrogenase. Loss of this enzyme's activity leads to an increase of sorbitol in serum. We retrospectively screened 166 patients with axonal neuropathy (predominantly CMT type 2, but including intermediate form of CMT and distal hereditary motor neuropathy (dHMN)) without identified genetic etiology for SORD mutations at a single large German neuromuscular center. Clinical and electrophysiology exam findings were analyzed for genotype-phenotype correlation. Five patients of the total cohort of 166 patients harbored pathogenic variants in SORD (3%). The homozygous frameshift variant c.757delG (p.Ala253Glnfs*27) was the most common (4/5). One additional case carried this variant on one allele only and an additional pathogenic missense variant c.458C > A (p.Ala153Asp) on the other allele. Age of onset ranged from early infancy to mid-twenties, and phenotypes comprised axonal CMT (4) and dHMN (1). Our findings strengthen the importance of screening for pathogenic variants in SORD, especially in patients with genetically unconfirmed axonal neuropathy, especially CMT type 2 and dHMN.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedad de Charcot-Marie-Tooth Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Neurogenet Año: 2024 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedad de Charcot-Marie-Tooth Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Neurogenet Año: 2024 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido