Neuropediatrics 2017; 48(06): 451-455
DOI: 10.1055/s-0037-1601868
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy

Michelle Grzybowski
1  Department of Child Neurology, Justus Liebig University, Giessen, Germany
,
Anne Schänzer
2  Institute of Neuropathology, Justus Liebig University, Giessen, Germany
,
Alexander Pepler
3  Center for Genomics and Transcriptomics, Tuebingen, Germany
,
Corina Heller
3  Center for Genomics and Transcriptomics, Tuebingen, Germany
,
Bernd A. Neubauer
1  Department of Child Neurology, Justus Liebig University, Giessen, Germany
,
Andreas Hahn
1  Department of Child Neurology, Justus Liebig University, Giessen, Germany
› Author Affiliations
Further Information

Publication History

23 November 2016

01 March 2017

Publication Date:
15 April 2017 (eFirst)

Abstract

Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation–contraction coupling in muscle. Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c.862A>T (p.K288*) and c.432+4A>T (aberrant splicing with skipping of exon 4). Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant hyperthermia. This case shows that NAM should also be considered in non-Indian patients with congenital myopathy, and suggests that STAC3 mutations should be taken into account as a potential cause of malignant hyperthermia.

Supplementary Material