Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability

American Journal of Medical Genetics, Part A

Volumn 170, Issue 2, 2016, Pages 515-522

  Fan, Yanjie ^a   Qiu, Wenjuan ^a   Wang, Lili ^a   Gu, Xuefan ^a   Yu, Yongguo ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

AUTS2; Chromosomal microarray; Copy number variations; Developmental delay; Intellectual disability

Indexed keywords

HUMAN GROWTH HORMONE; AUTS2 PROTEIN, HUMAN; PROTEIN;

ARTICLE; AUTS2 GENE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CHINESE; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; EXON; FEMALE; GENE; GENE DELETION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HORMONE SUBSTITUTION; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; DEVELOPMENTAL DISABILITIES; GENETICS; GENOMICS; INTELLECTUAL DISABILITY;

CHILD; DEVELOPMENTAL DISABILITIES; EXONS; FEMALE; GENOMICS; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROARRAY ANALYSIS; PROTEINS; SEQUENCE DELETION;

EID: 84956829022     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37454     Document Type: Article

References (15)

1. Allen DB, Cuttler L. 2013. Clinical practice. Short stature in childhood-challenges and choices. N Engl J Med 368:1220-1228.
2. Amarillo IE, Li WL, Li X, Vilain E, Kantarci S. 2014. De novo single exon deletion of AUTS2 in a patient with speech and language disorder: A review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders. Am J Med Genet A 164A:958-965.
3. Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A. 2014. The clinical significance of small copy number variants in neurodevelopmental disorders. J Med Genet 51:677-688.
4. Beunders G, de Munnik SA, Van der Aa N, Ceulemans B, Voorhoeve E, Groffen AJ, Nillesen WM, Meijers-Heijboer EJ, Frank Kooy R, Yntema HG, Sistermans EA. 2015. Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. Eur J Hum Genet 23:803-807.
5. Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. 2013. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet 92:210-220.
6. Ellison JW, Rosenfeld JA, Shaffer LG. 2013. Genetic basis of intellectual disability. Annu Rev Med 64:441-450.
7. Gao Z, Lee P, Stafford JM, von Schimmelmann M, Schaefer A, Reinberg D. 2014. An AUTS2-Polycomb complex activates gene expression in the CNS. Nature 516:349-354.
8. Hori K, Nagai T, Shan W, Sakamoto A, Taya S, Hashimoto R, Hayashi T, Abe M, Yamazaki M, Nakao K, Nishioka T, Sakimura K, Yamada K, Kaibuchi K, Hoshino M. 2014. Cytoskeletal regulation by AUTS2 in neuronal migration and neuritogenesis. Cell Rep 9:2166-2179.
9. Jolley A, Corbett M, McGregor L, Waters W, Brown S, Nicholl J, Yu S. 2013. De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review. Am J Med Genet A 161A:1508-1512.
10. Liu Y, Zhao D, Dong R, Yang X, Zhang Y, Tammimies K, Uddin M, Scherer SW, Gai Z. 2015. De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review. Am J Med Genet A 167A:1381-1385.
11. Nagamani SC, Erez A, Ben-Zeev B, Frydman M, Winter S, Zeller R, El-Khechen D, Escobar L, Stankiewicz P, Patel A, Cheung SW. 2013. Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. Eur J Hum Genet 21:343-346.
12. Oksenberg N, Ahituv N. 2013. The role of AUTS2 in neurodevelopment and human evolution. Trends Genet 29:600-608.
13. Oksenberg N, Haliburton GD, Eckalbar WL, Oren I, Nishizaki S, Murphy K, Pollard KS, Birnbaum RY, Ahituv N. 2014. Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Transl Psychiatry 4:e431.
14. Rosenfeld JA, Ballif BC, Torchia BS, Sahoo T, Ravnan JB, Schultz R, Lamb A, Bejjani BA, Shaffer LG. 2010. Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genet Med 12:694-702.
15. Sultana R, Yu CE, Yu J, Munson J, Chen D, Hua W, Estes A, Cortes F, de la Barra F, Yu D, Haider ST, Trask BJ, Green ED, Raskind WH, Disteche CM, Wijsman E, Dawson G, Storm DR, Schellenberg GD, Villacres EC. 2002. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics 80:129-134.