Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene (CROSBI ID 524976)
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Podaci o odgovornosti
Barišić, Nina ; von Au, Katja ; Radoš, Marko ; Pažanin, Leo ; Galić, Slobodan ; Cvitković, Miran ; Novak, Milivoj ; Lochmueller, Hanns ; Sperling, K. ; Lehman, Ivan ; Varon, R.
engleski
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene
We present a boy at the age of 4 months with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Oligohydroamnion was registered during pregnancy. Mild hypotonia, weak cry and calcaneovalgus foot deformity was present at birth. Subsequently he manifested mild delay in psychomotor development and convulsions. On exam he presented with myopathic face, respiratory difficulties, generalized hypotonia, weak pursuit, opistotonic posture, absent distal tendon reflexes, and reduced spontaneous movements more on distal parts of the extremities. Electromyoneurography showed severe neurogenic lesion more pronounced distally, absent compound muscle evoked potentials on peroneal nerves, decreased nerve conduction on upper extremities and prolonged distal latencies. EEG was normal. Muscle biopsy showed neurogenic atrophy, while sural nerve biopsy was normal. Brain MR scans showed delayed myelination of white matter. We performed a genetic analysis by sequencing the gene encoding immunoglobulin μ binding protein (IGHMBP2 ; chromosome 11q13.2-q13.4) and found the previously reported stop codon mutation 388C/T (R130X) in exon 3 and a novel point mutation 1743A/C (R581S) in exon 12 of IGHMBP2. Polymorphism has been excluded by analysing of 170 control chromosomes. Patient developed respiratory insuficiency at the age of 4 months and was artificially ventilated until he died at the age of 6 months. Delayed CNS maturation might occur in SMARD1 patient associated with novel point mutation R58S in IGHMBP2 gene
SMARD1; respiratory distress; IGHMBP2; CNS myelination
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Podaci o prilogu
653-x.
2006.
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objavljeno
Podaci o matičnoj publikaciji
Neuromuscular disorders
Elsevier
0960-8966
Podaci o skupu
11th International Congress of the World Muscle Society
poster
04.10.2006-07.10.2006
Brugge, Belgija