A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Khan, Muzammil A ^a,b   Rafiq, Muhammad A ^b   Noor, Abdul ^b   Ali, Nadir ^a   Ali, Ghazanfar ^a,c   Vincent, John B ^b,d   Ansar, Muhammad ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

^b CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 8; CONSANGUINEOUS MARRIAGE; DNA SEQUENCE; FEMALE; GENE DELETION; GENE MAPPING; GENE MUTATION; GENE TUMOR SUPPRESSOR CANDIDATE 3; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; PAKISTAN; PEDIGREE ANALYSIS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE; CHROMOSOME MAP; CONSANGUINITY; DNA MICROARRAY; FAMILY HEALTH; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETICS; HOMOZYGOTE; MENTAL DEFICIENCY; MUTATION; RECESSIVE GENE; X CHROMOSOME;

MEMBRANE PROTEIN; N33 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; CONSANGUINITY; FAMILY HEALTH; FEMALE; GENE DELETION; GENES, RECESSIVE; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MENTAL RETARDATION; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PAKISTAN; TUMOR SUPPRESSOR PROTEINS;

EID: 79955046979     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-56     Document Type: Article

References (22)

1. American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders. 2000, American Psychiatric Association, Washington, Fourth, Text Revision, American Psychiatric Association.
2. WHO The ICD-10 classification of mental and behavioral disorders. 1992, WHO, WHO.
3. Bartley JA, Hall BD. Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similar affected sibs of the proband. Birth Defects Orig Artic Ser 1978, 14:127-137.
4. OMIM database. , http://www.ncbi.nlm.nih.gov/omim/
5. Molinari F, Rio M, Meskenaite V, Encha-Razavi F, Auge J, Bacq D, Briault S, Vekemans M, Munnich A, Attie-Bitach T, Sonderegger P, Colleaux L. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science 2002, 298:1779-1781. 10.1126/science.1076521, 12459588.
6. Higgins JJ, Pucilowska J, Lombardi RQ, Rooney JP. A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Neurology 2004, 63:1927-1931. 1201536, 15557513.
7. Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. J Med Genet 2006, 43:203-210. 2563235, 16033914.
8. Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann B, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet 2007, 81:792-798. 10.1086/521275, 2227928, 17847003.
9. Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabdi H, Ropers HH, Kuss AW. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet 2008, 82:1158-1164. 10.1016/j.ajhg.2008.03.018, 2651624, 18452889.
10. Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, Edkins S, Futreal PA, Stratton MR, Turner G, Matthijs G, Gecz J, Munnich A, Colleaux L. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet 2008, 82:1150-1157. 10.1016/j.ajhg.2008.03.021, 2427205, 18455129.
11. Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet 2009, 85:909-915. 10.1016/j.ajhg.2009.11.009, 2790571, 20004765.
12. Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet 2009, 85:897-902. 10.1016/j.ajhg.2009.10.027, 2790576, 20004763.
13. Philippe O, Rio M, Carioux A, Plaza JM, Guigue P, Molinari F, Boddaert N, Bole-Feysot C, Nitschke P, Smahi A, Munnich A, Colleaux L. Combination of linkage mapping and microarray-expression analysis identifies NF-kappa-B signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet 2009, 85:903-908. 10.1016/j.ajhg.2009.11.007, 2795800, 20004764.
14. Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S, Garber M, Kodira CD, Schueler MG, Shimizu A, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Allen NR, Anderson S, Asakawa T, Blechschmidt K, Bloom T, Borowsky ML, Butler J, Cook A, Corum B, DeArellano K, DeCaprio D, Dooley KT, Dorris L, Engels R, Glöckner G, Hafez N, Hagopian DS, Hall JL, Ishikawa SK, Jaffe DB, Kamat A, Kudoh J, Lehmann R, Lokitsang T, Macdonald P, Major JE, Matthews CD, Mauceli E, Menzel U, Mihalev AH, Minoshima S, Murayama Y, Naylor JW, Nicol R, Nguyen C, O'Leary SB, O'Neill K, Parker SC, Polley A, Raymond CK, Reichwald K, Rodriguez J, Sasaki T, Schilhabel M, Siddiqui R, Smith CL, Sneddon TP, Talamas JA, Tenzin P, Topham K, Venkataraman V, Wen G, Yamazaki S, Young SK, Zeng Q, Zimmer AR, Rosenthal A, Birren BW, Platzer M, Shimizu N, Lander ES. DNA sequence and analysis of human chromosome 8. Nature 2006, 439:331-335. 10.1038/nature04406, 16421571.
15. Tabarés-Seisdedos R, Rubenstein JL. Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer. Mol Psychiatry 2009, 14:563-89. 10.1038/mp.2009.2, 19204725.
16. Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S, Maloney VK, Thomas NS, Bunyan DJ, Jackson A, Barber JC. Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Eur J Hum Genet 2009, 14:37-43.
17. Li C, Wong WH. Model-based analysis of oligonucleotide arrays: Expression index computation and outlier detection. Proc Natl Acad Sci 2001, 98:31-36. 10.1073/pnas.011404098, 14539, 11134512.
18. Seelow D, Schuelke M, Hildebrandt F, Nürnberg P. HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res 2009, 37:W593-599. 10.1093/nar/gkp369, 2703915, 19465395.
19. Primer3 software (version 0.4.0). , http://frodo.wi.mit.edu/primer3/
20. UCSC Genome Browser. , http://genome.ucsc.edu/
21. Database of genomic Variations. , http://projects.tcag.ca/variation/
22. Basel-Vanagaite L, Taub E, Halpern GJ, Drasinover V, Magal N, Davidov B, Zlotogora J, Shohat M. Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel. Eur J Hum Genet 2007, 15:250-253. 10.1038/sj.ejhg.5201750, 17149387.