De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila-Reference-Cited by-同舟云学术

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Published:2016-01-13 Issue:8 Volume:24 Page:1145-1153
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Lugtenberg Dorien,Reijnders Margot R F,Fenckova Michaela,Bijlsma Emilia K,Bernier Raphael,van Bon Bregje W M,Smeets Eric,Vulto-van Silfhout Anneke T,Bosch Danielle,Eichler Evan E,Mefford Heather C,Carvill Gemma L,Bongers Ernie M H F,Schuurs-Hoeijmakers Janneke HM,Ruivenkamp Claudia A,Santen Gijs W E,van den Maagdenberg Arn M J M,Peeters-Scholte Cacha M P C D,Kuenen Sabine,Verstreken Patrik,Pfundt Rolph,Yntema Helger G,de Vries Petra F,Veltman Joris A,Hoischen Alexander,Gilissen Christian,de Vries Bert B A,Schenck Annette,Kleefstra Tjitske,Vissers Lisenka E L M

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015282.pdf

Reference37 articles.

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2. Rauch A, Wieczorek D, Graf E et al: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380: 1674–1682.

3. Schuurs-Hoeijmakers JH, Oh EC, Vissers LE et al: Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet 2012; 91: 1122–1127.

4. 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.

5. Grozeva D, Carss K, Spasic-Boskovic O et al: De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. Am J Hum Genet 2014; 94: 618–624.

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