A Novel mutation of WNK1 gene causes hereditary sensory and autonomic neuropathy type II

Introduction: Hereditary Sensory and Autonomic Neuropathy type II (HSAN- type2) is characterized byprogressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often beforepuberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upperlimbs. Over time sensory function becomes severely reduced. Here we evaluated three related male patients withHSAN- type2. Three Iranian Azari Turkish brothers presented HSAN clinical presentations at 23, 25, 20 years ofage. They have two healthy brothers and their parents were first cousin.Method: Molecular analysis was performed by Next Generation Sequencing (NGS) and Sanger sequencingmethods in this family.Results: One homozygous nonsense mutation c.2971C> T (p.Arg991Ter) on the exon 9 of WNK1 gene has beendetected in three patients and confirmed by Sanger sequencing. Both parents were heterozygous for this mutationand two healthy brothers were career for this mutation.Conclusion: The mutation is a new nutation and has not been reported for HASAN pathogenicity yet, but thenonsense mutation leads to early termination of the amino acid coding, which is expected to affect the protein’sfunction.

کلیدواژه ها:

Hereditary Sensory and Autonomic Neuropathy ، New mutation ، WNK1 gene