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

Frontiers in Genetics

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