A patient with duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting dystrophin

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 1039-1042

  Erturk, Ozdem ^a   Bilguvar, Kaya ^b   Korkmaz, Baris ^a   Bayri, Yasar ^b   Bayrakli, Fatih ^b   Arlier, Zulfikar ^b   Ozturk, Ali K ^b   Yalcinkaya, Cengiz ^a   Tuysuz, Beyhan ^a   State, Matthew W ^b,c   Gunel, Murat ^b  

^a ISTANBUL UNIVERSITY   (Turkey)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

AUTISM; CASE REPORT; CHILD; CLINICAL FEATURE; DUCHENNE MUSCULAR DYSTROPHY; DYSTROPHIN GENE; GENE; GENE DELETION; HEMIZYGOSITY; HUMAN; LETTER; MALE; MOTOR DYSFUNCTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; DYSTROPHIN; EXONS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCULAR DYSTROPHY, DUCHENNE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; SEQUENCE DELETION;

EID: 77950392498     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33312     Document Type: Letter

References (24)

1. Bresolin N, Castelli E, Comi GP, Felisari G, Bardoni A, Perani D, Grassi F, Turconi A, Mazzucchelli F, Gallotti D, Moggio M, Prelle A, Ausenda C, Fazio G, Scarlato G. 1994. Cognitive impairment in Duchenne muscular dystrophy. Neuromuscul Disord 4:359-369. (Pubitemid 24280933)
2. Bushby KM, Appleton R, Anderson LV, Welch JL, Kelly P, Gardner-Medwin D. 1995. Deletion status and intellectual impairment in Duchenne muscular dystrophy. Dev Med Child Neurol 37:260-269.
3. Dolen G, Bear MF. 2008. Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome. J Physiol 586:1503-1508.
4. Dolen G, Osterweil E, Rao BS, Smith GB, Auerbach BD, Chattarji S, Bear MF. 2007. Correction of fragile X syndrome in mice. Neuron 56:955-962.
5. Ehninger D, Han S, Shilyansky C, Zhou Y, Li W, Kwiatkowski DJ, Ramesh V, Silva AJ. 2008. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med 14:843-848.
6. Emery AE. 2002. The muscular dystrophies. Lancet 359:687-695.
7. Felisari G, Martinelli Boneschi F, Bardoni A, Sironi M, Comi GP, Robotti M, Turconi AC, Lai M, Corrao G, Bresolin N. 2000. Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology 55:559-564. (Pubitemid 30647256)
8. Fombonne E. 2005. Epidemiology autistic disorder and other pervasive developmental disorders. J Clin Psychiatry 66:Suppl. 10 3-8. (Pubitemid 43133208)
9. Fradkin LG, Baines RA, van der Plas MC, Noordermeer JN. 2008. The dystrophin Dp186 isoform regulates neurotransmitter release at a central synapse in Drosophila. J Neurosci 28:5105-5114.
10. Giliberto F, Ferreiro V, Dalamon V, Szijan I. 2004. Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy. Neurol Res 26:83-87. (Pubitemid 38174393)
11. Gupta AR, State MW. 2007. Recent advances in the genetics of autism. Biol Psychiatry 61:429-437.
12. Hendriksen JG, Vles JS. 2008. Neuropsychiatric disorders in males with duchenne muscular dystrophy: Frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive-compulsive disorder. J Child Neurol 23:477-481.
13. Komoto J, Usui S, Otsuki S, Terao A. 1984. Infantile autism and Duchenne muscular dystrophy. J Autism Dev Disord 14:191-195.
14. Kumagai T, Miura K, Ohki T, Matsumoto A, Miyazaki S, Nakamura M, Ochi N, Takahashi O. 2001. Central nervous system involvements in Duchenne/Becker muscular dystrophy. No To Hattatsu 33:480-486. (Pubitemid 33115609)
15. Lindlof M, Kiuru A, Kaariainen H, Kalimo H, Lang H, Pihko H, Rapola J, Somer H, Somer M, Savontaus ML, de la Chapelle A. 1989. Gene deletions in X-linked muscular dystrophy. Am J Hum Genet 44:496-503.
16. Mochizuki H, Miyatake S, Suzuki M, Shigeyama T, Yatabe K, Ogata K, Tamura T, Kawai M. 2008. Mental retardation and lifetime events of Duchenne muscular dystrophy in Japan. Intern Med 47:1207-1210.
17. Schaefer GB, Mendelsohn NJ. 2008. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med 10:301-305.
18. Schopler E, Reichler RJ, DeVellis RF, Daly K. 1980. Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). J Autism Dev Disord 10:91-103.
19. Sekiguchi M, Zushida K, Yoshida M, Maekawa M, Kamichi S, Sahara Y, Yuasa S, Takeda S, Wada K. 2009. A deficit brain dystrophin impairs specific amygdala GABAergic transmission and enhances defensive behaviour in mice. Brain. 132:124-135.
20. Vaillend C, Billard JM, Laroche S. 2004. Impaired long-term spatial and recognition memory and enhanced CA1 hippocampal LTP in the dystrophin-deficient Dmd(mdx) mouse. Neurobiol Dis 17:10-20. (Pubitemid 39209308)
21. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M. 2007. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17:1665-1674. (Pubitemid 350074862)
22. Wu JY, Kuban KC, Allred E, Shapiro F, Darras BT. 2005. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol 20:790-795. (Pubitemid 43124466)
23. Young HK, Barton BA, Waisbren S, Portales Dale L, Ryan MM, Webster RI, North KN. 2008. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol 23:155-162.
24. Zwaigenbaum L, Tarnopolsky M. 2003. Two children with muscular dystrophies ascertained due to referral for diagnosis of autism. J Autism Dev Disord 33:193-199. (Pubitemid 36505297)