KEGG   VARIANT: 84823v1
Entry
84823v1                      Variant                               
Name
LMNB2 mutation
Type
Loss of function
Gene
LMNB2  lamin B2 [KO:K07611]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 150341
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00269  Primary microcephaly
H00420  Familial partial lipodystrophy
H00810  Progressive myoclonic epilepsy
Reference
  Authors
Damiano JA, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, Oliver KL, Dahl HH, Shearer AE, Smith RJ, Hall NE, Mahmood K, Leventer RJ, Scheffer IE, Muona M, Lehesjoki AE, Korczyn AD, Herrmann H, Berkovic SF, Hildebrand MS
  Title
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
  Journal
Hum Mol Genet 24:4483-90 (2015)
DOI:10.1093/hmg/ddv171
Reference
  Authors
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN
  Title
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.
  Journal
Am J Hum Genet 79:383-9 (2006)
DOI:10.1086/505885
Reference
  Authors
Parry DA, Martin CA, Greene P, Marsh JA, Blyth M, Cox H, Donnelly D, Greenhalgh L, Greville-Heygate S, Harrison V, Lachlan K, McKenna C, Quigley AJ, Rea G, Robertson L, Suri M, Jackson AP
  Title
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
  Journal
Genet Med 23:408-414 (2021)
DOI:10.1038/s41436-020-00980-3
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