A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.

Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and sterotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more...

Descripción completa

Detalles Bibliográficos
Autores principales: Bailey, A, Hervas, A, Matthews, N, Palferman, S, Wallace, S, Aubin, A, Michelotti, J, Wainhouse, C, Papanikolaou, K, Rutter, M, Maestrini, E, Marlow, A, Weeks, D, Lamb, J, Francks, C, Kearsley, G, Scudder, P, Monaco, A, Baird, G, Cox, A, Cockerill, H, Le Couteur, A, Berney, T, Cooper, H, Kelly, T
Formato: Journal article
Lenguaje:English
Publicado: 1998
_version_ 1826299009943207936
author Bailey, A
Hervas, A
Matthews, N
Palferman, S
Wallace, S
Aubin, A
Michelotti, J
Wainhouse, C
Papanikolaou, K
Rutter, M
Maestrini, E
Marlow, A
Weeks, D
Lamb, J
Francks, C
Kearsley, G
Scudder, P
Monaco, A
Baird, G
Cox, A
Cockerill, H
Le Couteur, A
Berney, T
Cooper, H
Kelly, T
author_facet Bailey, A
Hervas, A
Matthews, N
Palferman, S
Wallace, S
Aubin, A
Michelotti, J
Wainhouse, C
Papanikolaou, K
Rutter, M
Maestrini, E
Marlow, A
Weeks, D
Lamb, J
Francks, C
Kearsley, G
Scudder, P
Monaco, A
Baird, G
Cox, A
Cockerill, H
Le Couteur, A
Berney, T
Cooper, H
Kelly, T
author_sort Bailey, A
collection OXFORD
description Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and sterotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium. Regions on six chromosomes (4, 7, 10, 16, 19 and 22) were identified which generated a multipoint maximum lod score (MLS) > 1. A region on chromosome 7q was the most significant with an MLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affected sib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most significant, with an MLS of 1.97 in the UK families, and 1.51 in all families. These results are an important step towards identifying genes predisposing to autism; establishing their general applicability requires further study.
first_indexed 2024-03-07T04:55:24Z
format Journal article
id oxford-uuid:d66f0c7c-0edc-4822-a65b-148aa6136af7
institution University of Oxford
language English
last_indexed 2024-03-07T04:55:24Z
publishDate 1998
record_format dspace
spelling oxford-uuid:d66f0c7c-0edc-4822-a65b-148aa6136af72022-03-27T08:33:31ZA full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:d66f0c7c-0edc-4822-a65b-148aa6136af7EnglishSymplectic Elements at Oxford1998Bailey, AHervas, AMatthews, NPalferman, SWallace, SAubin, AMichelotti, JWainhouse, CPapanikolaou, KRutter, MMaestrini, EMarlow, AWeeks, DLamb, JFrancks, CKearsley, GScudder, PMonaco, ABaird, GCox, ACockerill, HLe Couteur, ABerney, TCooper, HKelly, TAutism is characterized by impairments in reciprocal social interaction and communication, and restricted and sterotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium. Regions on six chromosomes (4, 7, 10, 16, 19 and 22) were identified which generated a multipoint maximum lod score (MLS) > 1. A region on chromosome 7q was the most significant with an MLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affected sib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most significant, with an MLS of 1.97 in the UK families, and 1.51 in all families. These results are an important step towards identifying genes predisposing to autism; establishing their general applicability requires further study.
spellingShingle Bailey, A
Hervas, A
Matthews, N
Palferman, S
Wallace, S
Aubin, A
Michelotti, J
Wainhouse, C
Papanikolaou, K
Rutter, M
Maestrini, E
Marlow, A
Weeks, D
Lamb, J
Francks, C
Kearsley, G
Scudder, P
Monaco, A
Baird, G
Cox, A
Cockerill, H
Le Couteur, A
Berney, T
Cooper, H
Kelly, T
A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.
title A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.
title_full A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.
title_fullStr A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.
title_full_unstemmed A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.
title_short A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.
title_sort full genome screen for autism with evidence for linkage to a region on chromosome 7q international molecular genetic study of autism consortium
work_keys_str_mv AT baileya afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT hervasa afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT matthewsn afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT palfermans afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT wallaces afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT aubina afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT michelottij afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT wainhousec afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT papanikolaouk afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT rutterm afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT maestrinie afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT marlowa afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT weeksd afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT lambj afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT francksc afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT kearsleyg afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT scudderp afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT monacoa afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT bairdg afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT coxa afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT cockerillh afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT lecouteura afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT berneyt afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT cooperh afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT kellyt afullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT baileya fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT hervasa fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT matthewsn fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT palfermans fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT wallaces fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT aubina fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT michelottij fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT wainhousec fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT papanikolaouk fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT rutterm fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT maestrinie fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT marlowa fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT weeksd fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT lambj fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT francksc fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT kearsleyg fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT scudderp fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT monacoa fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT bairdg fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT coxa fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT cockerillh fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT lecouteura fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT berneyt fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT cooperh fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium
AT kellyt fullgenomescreenforautismwithevidenceforlinkagetoaregiononchromosome7qinternationalmoleculargeneticstudyofautismconsortium