Phenotypic extremes of BICD2-opathies: From lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

European Journal of Human Genetics

Volumn 25, Issue 9, 2017, Pages 1040-1048

  Storbeck, Markus ^a   Horsberg Eriksen, Beate ^b   Unger, Andreas ^c   Hölker, Irmgard ^a   Aukrust, Ingvild ^d   Martínez Carrera, Lilian A ^a   Linke, Wolfgang A ^c   Ferbert, Andreas ^e   Heller, Raoul ^a   Vorgerd, Matthias ^f   Houge, Gunnar ^d   Wirth, Brunhilde ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b Møre and Romsdal Health Trust   (Norway)

^c RUHR UNIVERSITY BOCHUM   (Germany)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^e KLINIKUM KASSEL   (Germany)

^f RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; ASSISTED VENTILATION; CLINICAL FEATURE; CONGENITAL MUSCULAR ATROPHY; DEATH; FETUS MOVEMENT; GASTROCNEMIUS MUSCLE; GENETIC VARIATION; HUMAN; HUMAN TISSUE; LETHALITY; MUSCLE TONE; PHENOTYPE; PRIORITY JOURNAL; RADIODIAGNOSIS; RESPIRATORY FAILURE; SPINAL MUSCULAR ATROPHY; ADULT; ASYMPTOMATIC DISEASE; FEMALE; GENETICS; INFANT; MALE; METABOLISM; MISSENSE MUTATION; PEDIGREE; SKELETAL MUSCLE; SYNDROME;

BICD2 PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN;

ADULT; ARTHROGRYPOSIS; ASYMPTOMATIC DISEASES; FEMALE; HUMANS; INFANT; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUSCLE, SKELETAL; MUSCULAR ATROPHY, SPINAL; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 85027028242     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2017.98     Document Type: Article

References (28)

1. Neveling K, Martinez-Carrera LA, Holker I et al: Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet 2013; 96: 946-954
2. Peeters K, Litvinenko I, Asselbergh B et al: Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. Am J Hum Genet 2013; 92: 955-964
3. Oates EC, Rossor AM, Hafezparast M et al: Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet 2013; 92: 965-973
4. Rossor AM, Oates EC, Salter HK et al: Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain 2015; 138: 293-310
5. Synofzik M, Martinez-Carrera LA, Lindig T, Schols L, Wirth B: Dominant spinal muscular atrophy due to BICD2: A novel mutation refines the phenotype. J Neurol Neurosurg Psychiatry 2014; 85: 590-592
6. Rudnik-Schoneborn S, Deden F, Eggermann K et al: Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations. Muscle Nerve 2016; 54: 496-500
7. Hoogenraad CC, Akhmanova A, Howell SA et al: Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexes. EMBO J 2001; 20: 4041-4054
8. Matanis T, Akhmanova A, Wulf P et al: Bicaudal-D regulates COPI-independent Golgi-ER transport by recruiting the dynein-dynactin motor complex. Nat Cell Biol 2002; 4: 986-992
9. Bredrup C, Johansson S, Bindoff LA et al: High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). Am J Ophthalmol 2015; 159: 973-979, e972
10. Unger A, Dekomien G, Guttsches A et al: Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement. Neurology 2016; 87: 2235-2243
11. Ravenscroft G, Di Donato N, Hahn G et al: Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. Neuromuscul Disord 2016; 26: 744-748
12. Adams C, Suchowersky O, Lowry RB: Congenital autosomal dominant distal spinal muscular atrophy. Neuromuscul Disord 1998; 8: 405-408
13. Bamshad M, Van Heest AE: Pleasure D: Arthrogryposis: A review and update. J Bone Joint Surg Am 2009; 91: 40-46
14. Abicht A, Muller JS, Lochmuller HCongenital Myasthenic Syndromes. In: Pagon RA, Adam MP, Ardinger HH et al: (eds): GeneReviews(R) 1993
15. Burglen L, Amiel J, Viollet L et al: Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. J Clin Invest 1996; 98: 1130-1132
16. Ramser J, Ahearn ME, Lenski C et al: Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet 2008; 82: 188-193
17. Hall JG: Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B 1997; 6: 159-166
18. Fiorillo C, Moro F, Brisca G et al: Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2. Eur J Neurol 2016; 23: e19-e21
19. Martinez-Carrera LA, Wirth B: Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein. Front Neurosci 2015; 9: 401
20. Splinter D, Razafsky DS, Schlager MA et al: BICD2, dynactin, and LIS1 cooperate in regulating dynein recruitment to cellular structures. Mol Biol Cell 2012; 23: 4226-4241
21. Terenzio M, Schiavo G: The more, the better: the BICD family gets bigger. EMBO J 2010; 29: 1625-1626
22. Poirier K, Lebrun N, Broix L et al: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet 2013; 45: 639-647
23. Schiavo G, Greensmith L, Hafezparast M, Fisher EM: Cytoplasmic dynein heavy chain: the servant of many masters. Trends Neurosci 2013; 36: 641-651
24. Hoang HT, Schlager MA, Carter AP, Bullock SL: DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes. Proc Natl Acad Sci USA 2017; 9: e1597-e1606
25. Harms MB, Ori-McKenney KM, Scoto M et al: Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 2012; 78: 1714-1720
26. Kousi M, Katsanis N: Genetic modifiers and oligogenic inheritance. Cold Spring Harb Perspect Med 2015; 5: a017145
27. Hosseinibarkooie S, Peters M, Torres-Benito L et al: The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype. Am J Hum Genet 2016; 99: 647-665
28. Riessland M, Kaczmarek A, Schneider S et al: Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis. Am J Hum Genet 2017; 100: 297-315.