Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Neurology

Volumn 84, Issue 7, 2015, Pages 668-679

  Scoto, Mariacristina ^a   Rossor, Alexander M ^b   Harms, Matthew B ^c   Cirak, Sebahattin ^d   Calissano, Mattia ^a   Robb, Stephanie ^a   Manzur, Adnan Y ^a   Arroyo, Amaia Martínez ^e   Sanz, Aida Rodriguez ^e   Mansour, Sahar ^f   Fallon, Penny ^f   Hadjikoumi, Irene ^f   Klein, Andrea ^g   Yang, Michele ^h   De Visser, Marianne ⁱ   Overweg Plandsoen, W C G Truus ⁱ   Baas, Frank ⁱ   Taylor, J Paul ^p   Benatar, Michael ^q   Connolly, Anne M ^c   Al Lozi, Muhammad T ^c   Nixon, John ^r   De Goede, Christian G E L ^r   Foley, A Reghan ^a   McWilliam, Catherine ^j   Pitt, Matthew ^m   Sewry, Caroline ^a,k   Phadke, Rahul ^a   Hafezparast, Majid ^l   Chong, W K Kling ^m   Mercuri, Eugenio ⁿ   Baloh, Robert H ^o   Reilly, Mary M ^b   Muntoni, Francesco ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^e Hospital Galdakao Usansolo   (Spain)

^f ST GEORGE S HOSPITAL   (United Kingdom)

^g UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^h UNIVERSITY OF COLORADO   (United States)

ⁱ UNIVERSITY OF AMSTERDAM   (Netherlands)

^j NINEWELLS HOSPITAL   (United Kingdom)

^k ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^l UNIVERSITY OF SUSSEX   (United Kingdom)

^m GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁿ FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^o CEDARS SINAI MEDICAL CENTER   (United States)

^p ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^q UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^r ROYAL PRESTON HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTHROGRYPOSIS; ARTICLE; ATTENTION DEFICIT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BRAIN MALFORMATION; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; DENERVATION; DYNEIN CYTOPLASMIC 1 HEAVY CHAIN 1; ELECTROPHYSIOLOGY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HAPLOTYPE; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; MALE; MEDICAL RECORD; NERVE CONDUCTION; NEUROIMAGING; NEURONAL MIGRATION DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SEMITENDINOUS MUSCLE; ADOLESCENT; BRAIN; COHORT ANALYSIS; FAMILY; GENETICS; INFANT; LEG; MIDDLE AGED; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; SPINAL MUSCULAR ATROPHY; VERY ELDERLY; YOUNG ADULT;

CYTOPLASMIC DYNEIN; DYNC1H1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED, 80 AND OVER; BRAIN; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CYTOPLASMIC DYNEINS; FAMILY; HUMANS; INFANT; LEG; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 84923250797     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001269     Document Type: Article

References (32)

1. Fleury P, Hageman G. A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. J Neurol Neurosurg Psychiatry 1985;48: 1037-1048.
2. Frijns CJ, Van Deutekom J, Frants RR, Jennekens FG. Dominant congenital benign spinal muscular atrophy. Muscle Nerve 1994;17:192-197.
3. Van der Vleuten AJ, van Ravenswaaij-Arts CM, Frijns CJ, et al. Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24. Eur J Hum Genet 1998;6:376-382.
4. Mercuri E, Messina S, Kinali M, et al. Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study. Neuromuscul Disord 2004;14:125-129.
5. Deng HX, Klein CJ, Yan J, et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 2010;42:165-169.
6. Auer-Grumbach M, Olschewski A, Papi-c L, et al. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 2010;42:160-164.
7. Harms MB, Allred P, Gardner R Jr, et al. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology 2010;75:539-546.
8. 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.
9. 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.
10. Weedon MN, Hastings R, Caswell R, et al. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet 2011;89:308-312.
11. Tsurusaki Y, Saitoh S, Tomizawa K, et al. A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. Neurogenetics 2012;13: 327-332.
12. Vissers LE, de Ligt J, Gilissen C, et al. A de novo paradigm for mental retardation. Nat Genet 2010;42:1109-1112.
13. Willemsen MH, Vissers LE, Willemsen MA, et al. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet 2012;49:179-183.
14. 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.
15. Fiorillo C, Moro F, Yi J, et al. Novel dynein DYNC1H1 neck and motor domain mutations link distal SMA and abnormal cortical development. Hum Mutat 2014;35: 298-302. doi: 10.1002/humu.22491.
16. Hafezparast M, Klocke R, Ruhrberg C, et al. Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science 2003;300:808-812.
17. Dupuis L, Fergani A, Braunstein KE, et al. Mice with a mutation in the dynein heavy chain 1 gene display sensory neuropathy but lack motor neuron disease. Exp Neurol 2009;215:146-152.
18. Ori-McKenney KM, Vallee RB. Neuronal migration defects in the Loa dynein mutant mouse. Neural Dev 2011;6:26.
19. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-249.
20. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-1081.
21. Choi Y, Sims GE, Murphy S, et al. Predicting the functional effect of amino acid substitutions and indels. PLoS One 2012;7:e46688.
22. Schwarz JM, Cooper DN, SchuelkeM, et al. MutationTaster2: mutation prediction for the deep-sequencing age. NatMethods 2014;11:361-362.
23. Reva BA, Antipin YA, Sander C. Determinants of protein function revealed by combinatorial entropy optimization. Genome Biol 2007;8:R232.
24. Achenbach T, Rescorla L. Child Behavior Checklist. Burlington, VT: ASEBA; 2000.
25. Keith LC. CPRS-R: L, CTRS-R: Conners 2000. Conners Rating Scales-Revised: Technical Manual. Toronto: Multi-Health System Inc.; 2000.
26. Dubowitz V, Sewry C, Oldfors A. Muscle Biopsy: A Practical Approach, 4th ed. Oxford: Elsevier; 2013.
27. Mercuri E, Pichiecchio A, Counsell S, et al. A short protocol for muscle MRI in children with muscular dystrophies. Eur J Paediatr Neurol 2002;6:305-307.
28. Nishimura AL, Mitne-Neto M, Silva HC, et al A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004;75:822-831.
29. Reddel S, Ouvrier RA, Nicholson G, et al. Autosomal dominant congenital spinal muscular atrophy - a possible developmental deficiency of motor neurones? Neuromuscul Disord 2008;18:530-535.
30. Astrea G, Brisca G, Fiorillo C, et al. Muscle MRI in TRPV4-related congenital distal SMA. Neurology 2012; 78:364-365.
31. Polanczyk G, de Lima MS, Horta BL, et al. The worldwide prevalence of ADHD: a systematic review and metaregression analysis. Am J Psychiatry 2007;164:942-948.
32. Rappley MD. Clinical practice: attention deficithyperactivity disorder. N Engl J Med 2005;352:165-173.