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Article

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.

American journal of medical genetics. Part A - 1 Jul 2022

Taşdelen Elifcan, Calame Daniel G, Akay Gulsen, Mitani Tadahiro, Fatih Jawid M, Herman Isabella, Du Haowei, Coban-Akdemir Zeynep, Marafi Dana, Jhangiani Shalini N, Posey Jennifer E, Gibbs Richard A, Altıparmak Taylan, Kutlay Nüket Yürür, Lupski James R, Pehlivan Davut

Abstract excerpt

Hereditary sensory and autonomic neuropathy type 2B (HSAN2B) is a rare autosomal recessive peripheral neuropathy caused by biallelic variants in RETREG1 (formerly FAM134B). HSAN2B is characterized by sensory impairment resulting in skin ulcerations, amputations, and osteomyelitis as well as variable weakness, spasticity, and autonomic dysfunction. Here, we report four affected individuals with recurrent...

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PMID: 35332675
DOI: 10.1002/ajmg.a.62727
PMCID: PMC9197852

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