A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review

Rishika P Sakaria; Megan P Fonville; Silpa Peravali; Parul G Zaveri; Henry J Mroczkowski; Elena Caron; Mark F Weems

doi:10.1002/ajmg.a.62609

A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review

Am J Med Genet A. 2022 Apr;188(4):1245-1250. doi: 10.1002/ajmg.a.62609. Epub 2021 Dec 13.

Authors

Rishika P Sakaria^{1

2}, Megan P Fonville², Silpa Peravali², Parul G Zaveri^{1

2}, Henry J Mroczkowski^{2

3}, Elena Caron^{2

3

4}, Mark F Weems^{1

2}

Affiliations

¹ Division of Neonatology, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.
² Department of Pediatrics, Le Bonheur Children's Hospital, Memphis, Tennessee, USA.
³ Division of Genetics, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.
⁴ Division of Pediatric Neurology, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.

PMID: 34897952
DOI: 10.1002/ajmg.a.62609

Abstract

The DST gene is located on chromosome 6p and encodes for a large protein. Alternative splicing of this protein produces the neuronal (a1-a3), muscular (b1-b3), and epithelial (e) isoforms. Hereditary sensory and autonomic neuropathy (HSAN) type VI is a rare autosomal recessive disorder due to mutations affecting the a2 isoform. We present a case of HSAN-VI in a male neonate born to consanguineous parents. Genome sequencing revealed a novel homozygous variant (DST_c.1118C > T; p.Pro373Leu) inherited from both parents. This case further expands the phenotype and genotype of this rare syndrome.

Keywords: DST; HSAN-VI; bullous pemphigoid antigen; hypotonia; neonate; neuropathy.

Publication types

Case Reports
Review

MeSH terms

Dystonin / genetics
Hereditary Sensory and Autonomic Neuropathies* / diagnosis
Hereditary Sensory and Autonomic Neuropathies* / genetics
Humans
Infant
Male
Neurons / metabolism
Phenotype
Protein Isoforms / genetics

Substances

Dystonin
Protein Isoforms