Park, Geun-Young and Jang, Dae-Hyun and Lee, Dong-Woo and Jang, Ja-Hyun and Joo, Joungsu (2019) Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5. Frontiers in Genetics, 10. ISSN 1664-8021
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Abstract
Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offspring 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 offspring of non-consanguineous parents.
Item Type: | Article |
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Subjects: | GO for STM > Medical Science |
Depositing User: | Unnamed user with email support@goforstm.com |
Date Deposited: | 11 Feb 2023 08:12 |
Last Modified: | 22 Aug 2023 07:02 |
URI: | http://archive.article4submit.com/id/eprint/206 |