Lethal multiple pterygium syndrome large cystic hygroma and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.
Genes associated with Nemaline Myopathy were sequenced. Four mutations in NEB (c.17779_17780delTA c.11086A>C c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the novel variants c.17779_17780delTA c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process.
nebulin containing exon 144 is the default isoform early in myogenesis while regulated expression of nebulin containing exon 143 occurs at later stages of muscle development
We examined a Chinese strabismus pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1) gene and nebulin (NEB) gene. c.A914G mutation was found in nebulin (NEB) gene.
Shorter than normal thin filament length contributes to the impaired force generation in patients with thin filament myopathy but only in those who harbor specific mutations in NEB or ACTA1.
Since the patients are characterized by generalized muscle weakness together with neurodevelopmental phenotypes it is suggested that NEB mutations could manifest more diverse phenotypes than those previously described.
indicates that nebulin tolerates substantial changes in its amino acid sequence providing an explanation as to why variants in such a large gene result in relatively rare disorders
Data suggest that for some filament-forming desmin mutants the molecular etiology of desminopathy results from subtle deficiencies in their association with nebulin a major actin-binding filament protein of striated muscle.
Multiple isoforms of nebulin expressed in skeletal muscle and brain may have a role as actin filament stabilizer or length regulator in neurons of the human brain
Ultrasonographic findings suggestive of a myopathy and a carrier state for the NEB exon 55 deletion in one of the parents should trigger a thorough investigation for nemaline.
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