Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome

被引：5

作者：

Dawson, Paul A. ^{[1
]}

Lee, Soohyun ^{[1
,3
]}

Ewing, Adam D. ^{[1
]}

Prins, Johannes B. ^{[1
,4
]}

Heussler, Helen S. ^{[1
,2
]}

机构：

[1] Univ Queensland, Mater Res Inst, Level 4 Translat Res Inst, Woolloongabba, Qld 4102, Australia

[2] Queensland Childrens Hosp, Childrens Hlth Queensland Hosp & Hlth Serv, South Brisbane, Qld 4101, Australia

[3] Univ Queensland, Queensland Brain Inst, St Lucia, Qld 4072, Australia

[4] Univ Melbourne, Melbourne, Vic 3010, Australia

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2020年 / 23卷

基金：

澳大利亚研究理事会;

关键词：

SECONDARY FINDINGS; SPECTRUM; DISCOVERY; VARIANT; EXOME;

D O I：

10.1016/j.ymgmr.2020.100593

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report an actionable secondary finding from whole-genome sequencing (WGS) of a 10-year-old boy with autism. WGS identified non-synonymous variants in several genes, including a nonsense mutation in the ANOS1 gene which is an X-linked cause of Kallmann syndrome. WGS can provide insights into complex genetic disorders such as autism, and actionable incidental findings can offer the potential for therapeutic interventions. © 2020 The Authors

引用

页数：3

共 22 条

[1]

[Anonymous], J GENET SYNDR GENE T

[2]

[Anonymous], 2013, ARXIV13033997V2

[3] Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers [J].

Chocholska, S ;

Rossier, E ;

Barbi, G ;

Kehrer-Sawatzki, H .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (06) :604-610

[4] Synaptic, transcriptional and chromatin genes disrupted in autism [J].

De Rubeis, Silvia ;

He, Xin ;

Goldberg, Arthur P. ;

Poultney, Christopher S. ;

Samocha, Kaitlin ;

Cicek, A. Ercument ;

Kou, Yan ;

Liu, Li ;

Fromer, Menachem ;

Walker, Susan ;

Singh, Tarjinder ;

Klei, Lambertus ;

Kosmicki, Jack ;

Fu, Shih-Chen ;

Aleksic, Branko ;

Biscaldi, Monica ;

Bolton, Patrick F. ;

Brownfeld, Jessica M. ;

Cai, Jinlu ;

Campbell, Nicholas G. ;

Carracedo, Angel ;

Chahrour, Maria H. ;

Chiocchetti, Andreas G. ;

Coon, Hilary ;

Crawford, Emily L. ;

Crooks, Lucy ;

Curran, Sarah R. ;

Dawson, Geraldine ;

Duketis, Eftichia ;

Fernandez, Bridget A. ;

Gallagher, Louise ;

Geller, Evan ;

Guter, Stephen J. ;

Hill, R. Sean ;

Ionita-Laza, Iuliana ;

Gonzalez, Patricia Jimenez ;

Kilpinen, Helena ;

Klauck, Sabine M. ;

Kolevzon, Alexander ;

Lee, Irene ;

Lei, Jing ;

Lehtimaeki, Terho ;

Lin, Chiao-Feng ;

Ma'ayan, Avi ;

Marshall, Christian R. ;

McInnes, Alison L. ;

Neale, Benjamin ;

Owen, Michael J. ;

Ozaki, Norio ;

Parellada, Mara .

NATURE, 2014, 515 (7526) :209-+

[5] A framework for variation discovery and genotyping using next-generation DNA sequencing data [J].

DePristo, Mark A. ;

Banks, Eric ;

Poplin, Ryan ;

Garimella, Kiran V. ;

Maguire, Jared R. ;

Hartl, Christopher ;

Philippakis, Anthony A. ;

del Angel, Guillermo ;

Rivas, Manuel A. ;

Hanna, Matt ;

McKenna, Aaron ;

Fennell, Tim J. ;

Kernytsky, Andrew M. ;

Sivachenko, Andrey Y. ;

Cibulskis, Kristian ;

Gabriel, Stacey B. ;

Altshuler, David ;

Daly, Mark J. .

NATURE GENETICS, 2011, 43 (05) :491-+

[6]

Fatemi S.H., 2013, TRANSL PSYCHIAT, V3, P271

[7] Expanding the genetic spectrum of ANOS 1 mutations in patients with congenital hypogonadotropic hypogonadism [J].

Goncalves, C. I. ;

Fonseca, F. ;

Borges, T. ;

Cunha, F. ;

Lemos, M. C. .

HUMAN REPRODUCTION, 2017, 32 (03) :704-711

[8] X-linked GnRH deficiency: Role of KAL-1 mutations in GnRH deficiency [J].

Hu, Youli ;

Bouloux, Pierre-Marc .

MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2011, 346 (1-2) :13-20

[9] Increased Dosage of High-Affinity Kainate Receptor Gene grik4 Alters Synaptic Transmission and Reproduces Autism Spectrum Disorders Features [J].

Isabel Aller, M. ;

Pecoraro, Valeria ;

Paternain, Ana V. ;

Canals, Santiago ;

Lerma, Juan .

JOURNAL OF NEUROSCIENCE, 2015, 35 (40) :13619-13628

[10] Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing [J].

Jiang, Yong-hui ;

Yuen, Ryan K. C. ;

Wang, Mingbang ;

Jin, Xin ;

Chen, Nong ;

Wu, Xueli ;

Ju, Jia ;

Mei, Junpu ;

Shi, Yujian ;

He, Mingze ;

Wang, Guangbiao ;

Liang, Jieqin ;

Wang, Zhe ;

Cao, Dandan ;

Carter, Melissa T. ;

Chrysler, Christina ;

Drmic, Irene E. ;

Howe, Jennifer L. ;

Lau, Lynette ;

Marshall, Christian R. ;

Merico, Daniele ;

Nalpathamkalam, Thomas ;

Thiruvahindrapuram, Bhooma ;

Thompson, Ann ;

Uddin, Mohammed ;

Walker, Susan ;

Luo, Jun ;

Anagnostou, Evdokia ;

Zwaigenbaum, Lonnie ;

Ring, Robert H. ;

Wang, Jian ;

Lajonchere, Clara ;

Wang, Jun ;

Shih, Andy ;

Szatmari, Peter ;

Yang, Huanming ;

Dawson, Geraldine ;

Li, Yingrui ;

Scherer, Stephen W. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (02) :249-263

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