Case Report ARTICLE
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.
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* Correspondence: Mx. Dae-Hyun Jang, College of Medicine, The Catholic University of Korea, Department of Rehabilitation Medicine, Seoul, South Korea, firstname.lastname@example.org