A genome scan for loci shared by autism spectrum disorder and language impairment.
A genome scan for loci shared by autism spectrum disorder and language impairment.
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DOI：
10.1176/appi.ajp.2013.12081103
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发表时间：
2014-01
期刊：
影响因子：
--
通讯作者：
Brzustowicz LM
中科院分区：
文献类型：
--
作者：
Bartlett CW;Hou L;Flax JF;Hare A;Cheong SY;Fermano Z;Zimmerman-Bier B;Cartwright C;Azaro MA;Buyske S;Brzustowicz LM
作者对分离自闭症和特定语言障碍的家庭进行了首次遗传连锁研究，以找到常见的沟通障碍基因座。假设这些家庭有很高的语言能力障碍基因负荷，从而影响自闭症家庭成员的语言和沟通缺陷。对家庭的全面行为表型分析还可以进行定量测量的联动分析，包括所有家庭成员在三个一般自闭症症状领域（社交、沟通和强迫行为）的正常、亚临床和无序变异。主要关联分析将患有自闭症或特定语言障碍的人编码为患有语言障碍的“影响”。二级关联分析包括自闭症相关行为的定量指标，捕获正常到临床严重的变化，在所有家庭成员中进行测量。在两个新的染色体位点 15q23-26 和 16p12 上建立了与语言表型的关联。对社交和强迫行为的正常和无序数量变化的二次分析建立了与社交行为的两个基因座（14q 和 15q）和重复行为的一个基因座（13q）的联系。这些数据表明自闭症的共同病因和两个新基因座的特定语言障碍。此外，基于社交冷漠和僵化人格特征的非语言表型在该样本中显示出令人信服的联系证据。在这些基因座上需要进一步的遗传图谱。
The authors conducted the first genetic linkage study of families that segregate both autism and specific language impairment to find common communication impairment loci. The hypothesis was that these families have a high genetic loading for impairments in language ability, thus influencing the language and communication deficits of the family members with autism. Comprehensive behavioral phenotyping of the families also enabled linkage analysis of quantitative measures, including normal, subclinical and disordered variation in all family members for the three general autism symptom domains: social, communication, and compulsive behaviors. The primary linkage analysis coded persons with either autism or specific language impairment as “affected” with language impairment. The secondary linkage analysis consisted of quantitative metrics of autism-associated behaviors capturing normal to clinically severe variation, measured in all family members. Linkage to language phenotypes was established at two novel chromosomal loci, 15q23-26 and 16p12. The secondary analysis of normal and disordered quantitative variation in social and compulsive behaviors established linkage to two loci for social behaviors (at 14q and 15q) and one locus for repetitive behaviors (at 13q). These data indicate shared etiology of autism and specific language impairment at two novel loci. Additionally, non-language phenotypes based on social aloofness and rigid personality traits showed compelling evidence for linkage in this sample. Further genetic mapping is warranted at these loci.
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影响因子：
16.2
作者：
Iossifov I;Ronemus M;Levy D;Wang Z;Hakker I;Rosenbaum J;Yamrom B;Lee YH;Narzisi G;Leotta A;Kendall J;Grabowska E;Ma B;Marks S;Rodgers L;Stepansky A;Troge J;Andrews P;Bekritsky M;Pradhan K;Ghiban E;Kramer M;Parla J;Demeter R;Fulton LL;Fulton RS;Magrini VJ;Ye K;Darnell JC;Darnell RB;Mardis ER;Wilson RK;Schatz MC;McCombie WR;Wigler M
通讯作者：
Wigler M
影响因子：
2.7
作者：
Bruse S;Moreau M;Azaro M;Zimmerman R;Brzustowicz L
通讯作者：
Brzustowicz L
影响因子：
10.6
作者：
Constantino, JN;Todd, RD
通讯作者：
Todd, RD
DOI：
10.1111/j.1469-7610.2004.00266.x
发表时间：
2004-05-01
影响因子：
7.6
作者：
Constantino, JN;Gruber, CP;Przybeck, T
通讯作者：
Przybeck, T
DOI：
10.1002/ajmg.1497
发表时间：
2001-08-08
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Bradford, Y;Haines, J;Piven, J
通讯作者：
Piven, J