Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

被引：1121
作者：
Durand, Christelle M.
Betancur, Catalina
Boeckers, Tobias M.
Bockmann, Juergen
Chaste, Pauline
Fauchereau, Fabien
Nygren, Gudrun
Rastam, Maria
Gillberg, I. Carina
Anckarsater, Henrik
Sponheim, Eili
Goubran-Botros, Hany
Delorme, Richard
Chabane, Nadia
Mouren-Simeoni, Marie-Christine
de Mas, Philippe
Bieth, Eric
Roge, Bernadette
Heron, Delphine
Burglen, Lydie
Gillberg, Christopher
Leboyer, Marion
Bourgeron, Thomas [1 ]
机构：
[1] Inst Pasteur, Human Genet & Cognit Funct, Paris, France
[2] Univ Paris 12, INSERM, U513, Creteil, France
[3] Univ Ulm, Inst Anat & Cell Biol, Ulm, Germany
[4] Univ Paris 07, Paris, France
[5] Univ Gothenburg, Dept Child & Adolescent Psychiat, Gothenburg, Sweden
[6] Univ Oslo, Ctr Child & Adolescent Psychiat, Oslo, Norway
[7] Hop Robert Debre, Assistance Publ Hop Paris, Serv Psychopathol Enfant & Adolescent, F-75019 Paris, France
[8] Purpan Hosp, Dept Med Genet, Toulouse, France
[9] Univ Toulouse Le Mirail, Ctr Etud Rech & Psychopathp, Toulouse, France
[10] Grp Hosp Pitie Salpetriere, Dept Genet, F-75634 Paris, France
[11] Hop Trousseau, Assistance Publ Hop Paris, Serv Genet, F-75571 Paris, France
[12] St Georges Hosp Med Sch, London, England
[13] Grp Hosp Henri Mondor & Albert Chenevier, Assistance Publ Hop Paris, Dept Psychiat, Creteil, France
来源：
NATURE GENETICS | 2007年 / 39卷 / 01期
关键词：
D O I：
10.1038/ng1933
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage - sensitive synaptic pathway that is involved in autism spectrum disorders.
引用
收藏
页码：25 / 27
页数：3
相关论文
共 15 条
  • [1] An architectural framework that may lie at the core of the postsynaptic density
    Baron, MK
    Boeckers, TM
    Vaida, B
    Faham, S
    Gingery, M
    Sawaya, MR
    Salyer, D
    Gundelfinger, ED
    Bowie, JU
    [J]. SCIENCE, 2006, 311 (5760) : 531 - 535
  • [2] ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease
    Boeckers, TM
    Bockmann, J
    Kreutz, MR
    Gundelfinger, ED
    [J]. JOURNAL OF NEUROCHEMISTRY, 2002, 81 (05) : 903 - 910
  • [3] Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
    Bonaglia, M. C.
    Giorda, R.
    Mani, E.
    Aceti, G.
    Anderlid, B-M
    Baroncini, A.
    Pramparo, T.
    Zuffardi, O.
    [J]. JOURNAL OF MEDICAL GENETICS, 2006, 43 (10) : 822 - 828
  • [4] Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
    Bonaglia, MC
    Giorda, R
    Borgatti, R
    Felisari, G
    Gagliardi, C
    Selicorni, A
    Zuffardi, O
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (02) : 261 - 268
  • [5] Spine architecture and synaptic plasticity
    Carlisle, HJ
    Kennedy, MB
    [J]. TRENDS IN NEUROSCIENCES, 2005, 28 (04) : 182 - 187
  • [6] Genetics of autism: Complex aetiology for a heterogeneous disorder
    Folstein, SE
    Rosen-Sheidley, B
    [J]. NATURE REVIEWS GENETICS, 2001, 2 (12) : 943 - 955
  • [7] Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    Jamain, S
    Quach, H
    Betancur, C
    Råstam, M
    Colineaux, C
    Gillberg, IC
    Soderstrom, H
    Giros, B
    Leboyer, M
    Gillberg, C
    Bourgeron, T
    Gillberg, C
    Råstam, M
    Gillberg, C
    Nydén, A
    Söderström, H
    Leboyer, M
    Betancur, C
    Philippe, A
    Giros, B
    Colineaux, C
    Cohen, D
    Chabane, N
    Mouren-Siméoni, MC
    Brice, A
    Sponheim, E
    Spurkland, I
    Skjeldal, OH
    Coleman, M
    Pearl, PL
    Cohen, IL
    Tsiouris, J
    Zappella, M
    Menchetti, G
    Pompella, A
    Aschauer, H
    Van Maldergem, L
    [J]. NATURE GENETICS, 2003, 34 (01) : 27 - 29
  • [8] A forkhead-domain gene is mutated in a severe speech and language disorder
    Lai, CSL
    Fisher, SE
    Hurst, JA
    Vargha-Khadem, F
    Monaco, AP
    [J]. NATURE, 2001, 413 (6855) : 519 - 523
  • [9] Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum
    Manning, MA
    Cassidy, SB
    Clericuzio, C
    Cherry, AM
    Schwartz, S
    Hudgins, L
    Enns, GM
    Hoyme, HE
    [J]. PEDIATRICS, 2004, 114 (02) : 451 - 457
  • [10] The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin
    Meyer, G
    Varoqueaux, F
    Neeb, A
    Oschlies, M
    Brose, N
    [J]. NEUROPHARMACOLOGY, 2004, 47 (05) : 724 - 733
12