Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.
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.
Department of Pediatrics, University of Szeged, Szeged, Hungary annagajd@gmail.com.
Anna
A
Gajda
Department of Medical Genetics, University of Szeged, Szeged, Hungary.
Emese
E
Horváth
Department of Neuropathology, University of Debrecen, Debrecen, Hungary.
Tibor
T
Hortobágyi
Department of Pediatrics, University of Szeged, Szeged, Hungary 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
Gyurgyinka
G
Gergev
Department of Pediatrics, University of Szeged, Szeged, Hungary.
Hajnalka
H
Szabó
Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
Katalin
K
Farkas
Department of Medical Genetics, University of Szeged, Szeged, Hungary Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
Nikoletta
N
Nagy
Department of Medical Genetics, University of Szeged, Szeged, Hungary Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
Márta
M
Széll
Department of Pediatrics, University of Szeged, Szeged, Hungary.
László
L
Sztriha
D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009132:Muscles / Q000473:pathology; D009154:Mutation; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
D009124:Muscle Proteins; C035620:nebulin
congenital myopathy; hypotonia; nebulin