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Case Report ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Genet. | doi: 10.3389/fgene.2019.01085

Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5

  • 1Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, South Korea

Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offsprings of consanguineous parents. Here we report the case of a patient born to non-consanguineous parents who was diagnosed with HSAN 2B caused due to a novel frameshift mutation (NM_001034850.2: c.765dupT/p.Gly256TrpfsTer7) in the RETREG1 gene and paternal uniparental isodisomy of chromosome 5. Uniparental isodisomy of chromosome 5 is also a rare condition, and these two rare events lead to homozygous expression of a recessive mutation, as in the present case. Clinicians should be aware that autosomal recessive disorders due to homozygous variants can occur because of uniparental disomy in offsprings of non-consanguineous parents.

Keywords: Hereditary sensory and autonomic neuropathy (HSAN), consanguineous marriage, Frameshift Mutation, Uniparental isodisomy, homozygous

Received: 03 Apr 2019; Accepted: 09 Oct 2019.

Copyright: © 2019 Jang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Mx. Dae-Hyun Jang, College of Medicine, The Catholic University of Korea, Department of Rehabilitation Medicine, Seoul, South Korea, dhjangmd@naver.com