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.
CITATION STYLE
Park, G. Y., Jang, D. H., Lee, D. W., Jang, J. H., & Joo, J. (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(OCT). https://doi.org/10.3389/fgene.2019.01085
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