Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene

Anna Gajda; Emese Horváth; Tibor Hortobágyi; Gyurgyinka Gergev; Hajnalka Szabó; Katalin Farkas; Nikoletta Nagy; Márta Széll; László Sztriha

doi:10.1177/0883073813494476

Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene

J Child Neurol. 2015 Apr;30(5):627-30. doi: 10.1177/0883073813494476. Epub 2013 Sep 20.

Authors

Anna Gajda¹, Emese Horváth², Tibor Hortobágyi³, Gyurgyinka Gergev⁴, Hajnalka Szabó⁵, Katalin Farkas⁶, Nikoletta Nagy⁷, Márta Széll⁷, László Sztriha⁵

Affiliations

¹ Department of Pediatrics, University of Szeged, Szeged, Hungary annagajd@gmail.com.
² Department of Medical Genetics, University of Szeged, Szeged, Hungary.
³ Department of Neuropathology, University of Debrecen, Debrecen, Hungary.
⁴ Department of Pediatrics, University of Szeged, Szeged, Hungary 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
⁵ Department of Pediatrics, University of Szeged, Szeged, Hungary.
⁶ Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
⁷ Department of Medical Genetics, University of Szeged, Szeged, Hungary Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.

PMID: 24056153
DOI: 10.1177/0883073813494476

Abstract

Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristic nemaline rods in the muscle biopsy. Mutations in at least 7 genes, including nebulin gene (NEB), proved to be responsible for this muscle disease. We present a boy with nemaline myopathy type 2 (NEM2) caused by compound heterozygosity for 2 novel mutations, a deletion and a duplication in the NEB gene. The deletion was inherited from the father and the duplication from the mother. Testing all family members supports genetic counseling.

Keywords: congenital myopathy; hypotonia; nebulin.

Publication types

Case Reports

MeSH terms

Child, Preschool
DNA Mutational Analysis
Humans
Male
Muscle Proteins / genetics*
Muscles / pathology
Mutation*
Myopathies, Nemaline / genetics*
Myopathies, Nemaline / pathology
Pedigree

Substances

Muscle Proteins
nebulin

Supplementary concepts

Nemaline Myopathy 2