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Patients present with an early onset demyelinating peripheral neuropathy causing severe distal muscle weakness and sensory loss, leading to loss of ambulation and progressive sensorineural hearing loss. The disorder was initially described in the Roma community due to a common founder mutation, and only a handful of disease-causing variants have been described in this gene so far. Here, we present genetic and clinical findings from a large Bulgarian cohort of demyelinating CMT patients harboring recurrent and novel variants in the NDRG1 gene. Notably, two splice-site variants are exclusive to Bulgarian Muslims and reside in ancestral haplotypes, suggesting a founder effect. Functional characterization of these novel variants implicates a loss-of-function mechanism due to shorter gene products. Our findings contribute to a deeper understanding of the genetic and clinical heterogeneity of CMT4D and highlight novel founder mutations in the ethnic minority of Bulgarian Muslims.<\/jats:p>","DOI":"10.3390\/ijms25169047","type":"journal-article","created":{"date-parts":[[2024,8,26]],"date-time":"2024-08-26T05:16:24Z","timestamp":1724649384000},"page":"9047","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot\u2013Marie\u2013Tooth Disease Type 4D in Bulgaria"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6097-3670","authenticated-orcid":false,"given":"Derek","family":"Atkinson","sequence":"first","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium"},{"name":"Department of Biomedical Sciences, University of Antwerp, 2610 Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5142-5007","authenticated-orcid":false,"given":"Teodora","family":"Chamova","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University-Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3528-2293","authenticated-orcid":false,"given":"Ayse","family":"Candayan","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium"},{"name":"Department of Biomedical Sciences, University of Antwerp, 2610 Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Kastreva","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University-Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ognian","family":"Asenov","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University-Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Litvinenko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical University-Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9868-2465","authenticated-orcid":false,"given":"Alejandro","family":"Estrada-Cuzcano","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium"},{"name":"Department of Biomedical Sciences, University of Antwerp, 2610 Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1464-3846","authenticated-orcid":false,"given":"Els","family":"De Vriendt","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium"},{"name":"Department of Biomedical Sciences, University of Antwerp, 2610 Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgi","family":"Kukushev","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Military Medical Academy-Sofia, 1606 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivailo","family":"Tournev","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University-Sofia, 1431 Sofia, Bulgaria"},{"name":"Department of Cognitive Science and Psychology, New Bulgarian University, 1618 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3833-3754","authenticated-orcid":false,"given":"Albena","family":"Jordanova","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium"},{"name":"Department of Biomedical Sciences, University of Antwerp, 2610 Antwerp, Belgium"},{"name":"Department of Medical Chemistry and Biochemistry, Medical University-Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1093\/brain\/121.3.399","article-title":"Hereditary Motor and Sensory Neuropathy\u2014Lom, a Novel Demyelinating Neuropathy Associated with Deafness in Gypsies. 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