Frontiers in Genetics | |
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5 | |
Dong-Woo Lee1  Dae-Hyun Jang1  Geun-Young Park1  Joungsu Joo2  Ja-Hyun Jang3  | |
[1] Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, South Korea;EONE-DIAGNOMICS Genome Center, Incheon, South Korea;Green Cross Genome, Yongin, South Korea; | |
关键词: hereditary sensory and autonomic neuropathy; consanguineous marriage; frameshift mutation; uniparental isodisomy; homozygous; | |
DOI : 10.3389/fgene.2019.01085 | |
来源: DOAJ |
【 摘 要 】
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.
【 授权许可】
Unknown