Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1710511
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Novel Mutation of HINT1 Gene in an Adolescent Female with Axonal Neuropathy and Neuromyotonia

1  Division of Child Neurology, Department of Pediatrics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey
,
Sedat Gül
2  Department of Pediatrics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey
,
Ayfer Sakarya Güneş
1  Division of Child Neurology, Department of Pediatrics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey
,
Serap Mülayim
3  Department of Neurology, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey
,
Gözde Yeşil
4  Department of Medical Genetics, Bezmialem Vakıf University, İstanbul, Turkey
› Author Affiliations
Further Information

Publication History

12 January 2020

10 April 2020

Publication Date:
24 May 2020 (online)

Abstract

HINT1 gene mutations cause an axonal neuropathy with some specific findings including presence of neuromyotonia, autosomal recessive inheritance, onset in the first decade, and primary motor involvement. We described an 18-year-old female patient who presented to the clinic with gait instability and muscle stiffness. A homozygous novel c.180_181delAT (p.Ser61Profs*8) variant in the HINT1 gene was found by clinical exome analysis. Parents were heterozygous for the same variant. The patient was diagnosed with autosomal recessive axonal neuropathy with neuromyotonia. The presence of neuromyotonia must be evaluated in patients with hereditary axonal neuropathies as this can help the diagnosis prior to genetic testing.