Literature DB >> 11039861

The HOPA gene dodecamer duplication is not a significant etiological factor in autism.

R C Michaelis1, S A Copeland-Yates, K Sossey-Alaoui, C Skinner, M J Friez, J W Longshore, R J Simensen, R J Schroer, R E Stevenson.   

Abstract

A recent study has suggested that a dodecamer duplication in the HOPA gene in Xq13 may occur in a significant portion of male patients with autism. We have determined the incidence of this duplication in 202 patients from the South Carolina Autism Study. The incidence of the duplication was not significantly different between patients and controls. Three of the female patients inherited the duplication from nonautistic fathers. In addition, there was no systematic skewing of X inactivation in the female patients with the duplication, or in nonautistic mothers and sisters with the duplication. These findings suggest that the dodecamer duplication in the HOPA gene does not play a significant role in the etiology of autism.

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Year:  2000        PMID： 11039861     DOI： 10.1023/a:1005583517994

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN： 0162-3257


  17 in total

1.  Xp deletions associated with autism in three females.

Authors:  N S Thomas; A J Sharp; C E Browne; D Skuse; C Hardie; N R Dennis
Journal:  Hum Genet       Date:  1999-01       Impact factor: 4.132

2.  opa: a novel family of transcribed repeats shared by the Notch locus and other developmentally regulated loci in D. melanogaster.

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Journal:  Cell       Date:  1985-01       Impact factor: 41.582

3.  X chromosome and infantile autism.

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Journal:  Biol Psychiatry       Date:  1996-09-15       Impact factor: 13.382

4.  Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.

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Journal:  Hum Mol Genet       Date:  1999-05       Impact factor: 6.150

5.  Autism and the X chromosome. Multipoint sib-pair analysis.

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Journal:  Arch Gen Psychiatry       Date:  1996-11

6.  Association of an X-chromosome dodecamer insertional variant allele with mental retardation.

Authors:  R A Philibert; B H King; S Winfield; E H Cook; Y H Lee; B Stubblefield; P Damschroder-Williams; C Dea; A Palotie; C Tengstrom; B M Martin; E I Ginns
Journal:  Mol Psychiatry       Date:  1998-07       Impact factor: 15.992

7.  Cytogenetic survey for autistic fragile X carriers in a mental retardation center.

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Journal:  Am J Ment Retard       Date:  1990-01

Review 8.  The neurobiology and genetics of infantile autism.

Authors:  L J Lotspeich; R D Ciaranello
Journal:  Int Rev Neurobiol       Date:  1993       Impact factor: 3.230

9.  Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders.

Authors:  C Lord; M Rutter; A Le Couteur
Journal:  J Autism Dev Disord       Date:  1994-10

10.  Fragile-X syndrome and autism: a prevalent association or a misinterpreted connection?

Authors:  B Maes; J P Fryns; M Van Walleghem; H Van den Berghe
Journal:  Genet Couns       Date:  1993
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  1 in total

1.  A case report of two male siblings with autism and duplication of Xq13-q21, a region including three genes predisposing for autism.

Authors:  Elisabet Wentz; Mihailo Vujic; Ewa-Lotta Kärrstedt; Anna Erlandsson; Christopher Gillberg
Journal:  Eur Child Adolesc Psychiatry       Date:  2013-08-23       Impact factor: 4.785
  1 in total

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