Research Articles from Autosomal Recessive ID and ASD

  1. Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M. (2008) A Gene On 4p15.33, CC2D2A, Encoding A Coiled-Coil And C2 Domain Protein, Causes Autosomal Recessive Mental Retardation With Retinitis Pigmentosa. Am J Hum Genet 82:1011-1018. http://www.sciencedirect.com/science/article/pii/S0002929708002073?via%3Dihub
  2. Gorden NT, Arts HH, Parisi MA, van Beersum SEC, Hikida A, Letteboer SJF, Eckert M, Coene KLM, Knutzen D, Mans DA, Alswaid AF, Özyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NVAM, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated, basal body protein CEP290. Am J Hum Genet 83:559-571. http://www.sciencedirect.com/science/article/pii/S0002929708005363?via%3Dihub
  3. Mir A, Kaufman L, Noor A, Jamil T, Azam M, Rafiq MA, Weksberg R, Nasr T, Naeem F, Kahrizi K, Ishak GE, Doherty D, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB. (2009) Identification of TRAPPC9, which encodes the NIK and IKK-β binding protein (NIBP), in Non-Syndromic Autosomal Recessive Mental Retardation. Am J Hum Genet 85:909-915. http://www.sciencedirect.com/science/article/pii/S0002929709005242?via%3Dihub
  4. Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin-ud-Din M, Feuk L, Vincent JB and Scherer SW. (2010) Mapping of 3 Novel Loci for Non-Syndromic Autosomal Recessive Mental Retardation (NS-ARMR) in Consanguineous Families from Pakistan. Clin Genet 78:478-483 PMID: 20345473
  5. Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M. (2011) A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability. BMC Medical Genetics 12:56. https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-12-56
  6. Sang L, Miller JJ, Corbit KC, Giles R, Brauer M, Otto E, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker E,       Sfakianos M, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O’Toole JF, Held S, Reuther HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi ARR, Sheffield VC, Slusarski DC, Vincent JB, Doherty D, Hildebrandt F, Reiter J, Jackson PK. (2011) Mapping of an NPHP-JBTS-MKS Interaction Network Guides Discovery of New Ciliopathy Disease Genes Ataxin10 and Tectonic2. Cell 145:513-528. http://www.sciencedirect.com/science/article/pii/S0092867411004776
  7. Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF. (2012) Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures. Clin Genet 82:540-545. PMID:22091964
  8. Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen K, Vincent JB, Ropers HH, Ansar M, Najmabadi H. (2011) Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal recessive intellectual disability. Am J Hum Genet 89:176-182. http://www.sciencedirect.com/science/article/pii/S000292971100259X?via%3Dihub
  9. Khan MA, Rafiq MA, Noor A, Hussain S, Rupp V, Vincent AK, Malli R, Ali G, Flores J, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, Ibrahim S, Frye M, Ansar M, Vincent JB. (2012) Mutation in NSUN2, which encodes an RNA Methyltransferase, causes autosomal-recessive intellectual disability. Am J Hum Genet 90:856-863. http://www.sciencedirect.com/science/article/pii/S0002929712002030?via%3Dihub
  10. Mir A, Sritharan K, Mittal K, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB. Truncation of the E3 Ubiquitin Ligase Component FBXO31 Causes Non-Syndromic Autosomal Recessive Intellectual Disability in a Pakistani Family. Hum Genet 133:975-984. PMID 24623383
  11. Vincent JB, Jamil T, Rafiq MA, Anwar Z, Ayaz M, Hameed A, Nasr T, Naeem F, Khattak NA, Carter M, Ahmed I, John P, Wiame E, Andrade DM, Schaftingen EV, Mir A, Ayub M. (2015) Phosphoserine Phosphatase (PSPH) Gene Mutation in an Intellectual Disability Family from Pakistan. Clin Genet 87:296-298. PMID 25080166
  12. Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Müller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba H-C. Disruption of the Methyltransferase-Like 23 Gene METTL23 Causes Mild Autosomal Recessive Intellectual Disability. Human Molecular Genetics 23:4015-4023. https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddu115
  13. Ahmed I, Rafiq MA, Vincent JB, Bhatti A, Ayub M, John P. (2015) Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families. Acta Neuropsychiatr. 27:38-47. PMID 25434728
  14. Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG (2014) Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Non-Syndromic Autosomal Recessive Intellectual Disability. Am J Hum Genet 95:721-728. http://www.sciencedirect.com/science/article/pii/S0002929714004649?via%3Dihub
  15. Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-Ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d’Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L. (2015) Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. BMC Med Genet 16:41. https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-015-0183-0
  16. Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Abou Jamra R. (2015) Mutations in DCPS and EDC3 in Autosomal Recessive Intellectual Disability Indicate a Crucial Role for mRNA Decapping in Neurodevelopment. Hum Mol Genet 24:3172-3180. https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddv069
  17. Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Rafiq MA, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos J, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB.(2015) Mutations in the Histamine N-Methyltransferase gene, HNMT, are Associated with Non-Syndromic Autosomal Recessive Intellectual Disability. Hum Mol Genet 24:5697-5710. https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddv286
  18. Vasli N, Ahmed I, Mittal K, Ohadi M, Mikhailov A, Rafiq MA, Bhatti A, Carter MT, Andrade DM, Ayub M, Vincent JB, John P. (2016) Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability. Psychiatr Genet. 26:66-73.
  19. Mittal K, Harripaul R, Rafiq MA, Law R, Ayaz M, Aslam M, So J, Vincent JB, Ayub M. Mutations in the Genes for Thyroglobulin and Thyroid Peroxidase Cause Thyroid Dyshormonogesis and Autosomal Recessive Intellectual. J Hum Genet 61:867-872.
  20. Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R. (2016) Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. Am J Hum Genet 99:912-916. http://www.sciencedirect.com/science/article/pii/S0002929716302932?via%3Dihub
  21. Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh T, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB. Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate Genes in 192 Consanguineous Families. Mol Psychiatry 11 April 2017 [epub ahead of print]

In addition, we have published three review articles relating to this research:

  1. Kaufman L, Ayub M, Vincent JB. (2010) The Genetic Basis of Non-syndromic Intellectual Disability: A Review. J Neurodev Dis 2:182-209. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/
  2. Kaufman L, Noor A, Ayub M, Vincent JB (2011) Common Genetic Etiologies and Biological Pathways Shared Between Autism Spectrum Disorders and Intellectual Disabilities. In Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment (Stephen Deutsch, Ed) pp 125-158 (Intech)
  3. Harripaul R, Noor A, Ayub M, Vincent JB (2017) The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.
    Cold Spring Harb Perspect Med. 7(3). pii: a026864. http://perspectivesinmedicine.cshlp.org/content/7/3/a026864.long
Scroll to Top