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Response to paper by Molloy et al.: Linkage on 21q and 7q in autism subset with regression

Molecular Psychiatry volume 11, pages 617–619 (2006)Cite this article

Molloy et al.1 recently reported evidence for linkage to chromosomes 21q and 7q in 34 affected relative pairs with autism and a history of developmental regression. We report the linkage results from the analysis of multiplex autism spectrum disorder (ASD) families recruited by the International Molecular Genetic Study of Autism Consortium (IMGSAC) in which at least one proband had a history of language regression. Molloy et al.1 found a maximum multipoint LOD score of 3.0 near D21S1432 on chromosome 21 and a multipoint LOD score of 2.0 near D7S483 on chromosome 7. We found no evidence of increased sharing in the reported region on chromosome 21q and modest evidence for increased sharing at D7S483 on chromosome 7.

The methodology employed by IMGSAC has been described in detail elsewhere.2 Briefly, 239 affected relative pair (ARP) families containing two or more individuals with an ASD were recruited and probands were assessed with both the Autism Diagnostic Interview-Revised (ADI-R)3 and the Autism Diagnostic Observational Schedule (ADOS);4 individuals with a known medical or genetic cause of autism were excluded. In the IMGSAC cohort, language regression was defined as loss of previously acquired language skills (of any complexity) at ⩽36 months of age that lasted for at least 3 months as recorded in the ADI-R; 98 individuals from 86 families experienced developmental language regression. Fifty-eight of these individuals with language regression lost a minimum of five words that were used with meaning for at least 3 months before loss and were assigned to a ‘strict language regression’ group.

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References

  1. Molloy CA, Keddache M, Martin LJ . Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression. Mol Psychiatry 2005; 10: 741–746.

    Article  CAS  PubMed  Google Scholar 

  2. IMGSAC. A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 2001; 69: 570–581.

  3. Lord C, Rutter M, Le Couteur A . Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994; 24: 659–685.

    Article  CAS  PubMed  Google Scholar 

  4. Lord C, Risi S, Lambrecht L, Cook EH, Leventhal BL, DLavore PC et al. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000; 30: 205–223.

    Article  CAS  PubMed  Google Scholar 

  5. IMGSAC. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 1998; 7: 571–578.

  6. Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, Richardsson B et al. A high-resolution recombination map of the human genome. Nat Genet 2002; 31: 241–247.

    Article  CAS  PubMed  Google Scholar 

  7. Kong X, Murphy K, Raj T, He C, White PS, Matise TC . A combined linkage-physical map of the human genome. Am J Hum Genet 2004; 75: 1143–1148.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES . Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58: 1347–1363.

    CAS  PubMed  PubMed Central  Google Scholar 

  9. Abecasis GR, Cherny SS, Cookson WO, Cardon LR . Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30: 97–101.

    Article  CAS  PubMed  Google Scholar 

Download references

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  1. Section of Child and Adolescent Psychiatry, University of Oxford, Oxford, OX3 7JX, UK

    J R Parr, J A Lamb, A J Bailey & A P Monaco

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  1. J R Parr
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  2. J A Lamb
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The International Molecular Genetic Study of Autism Consortium (IMGSAC)

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Correspondence to J R Parr.

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Parr, J., Lamb, J., Bailey, A. et al. Response to paper by Molloy et al.: Linkage on 21q and 7q in autism subset with regression. Mol Psychiatry 11, 617–619 (2006). https://doi.org/10.1038/sj.mp.4001833

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