Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

Shereen Georges Ghosh; Lu Wang; Martin W Breuss; Joshua D Green; Valentina Stanley; Xiaoxu Yang; Danica Ross; Bryan J Traynor; Amal M Alhashem; Matloob Azam; Laila Selim; Laila Bastaki; Hanan I Elbastawisy; Samia Temtamy; Maha Zaki; Joseph G Gleeson

doi:10.1136/jmedgenet-2019-106409

Article info

Neurogenetics

Original research

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

Authors

Shereen Georges Ghosh Neurosciences, University of California San Diego, La Jolla, California, USA Rady Children's Institute for Genomic Medicine, San Diego, California, USA PubMed articles Google scholar articles
Lu Wang Neurosciences, University of California San Diego, La Jolla, California, USA Rady Children's Institute for Genomic Medicine, San Diego, California, USA PubMed articles Google scholar articles
Martin W Breuss Neurosciences, University of California San Diego, La Jolla, California, USA Rady Children's Institute for Genomic Medicine, San Diego, California, USA PubMed articles Google scholar articles
Joshua D Green Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Valentina Stanley Neurosciences, University of California San Diego, La Jolla, California, USA Rady Children's Institute for Genomic Medicine, San Diego, California, USA PubMed articles Google scholar articles
Xiaoxu Yang Neurosciences, University of California San Diego, La Jolla, California, USA Rady Children's Institute for Genomic Medicine, San Diego, California, USA PubMed articles Google scholar articles
Danica Ross Neurosciences, University of California San Diego, La Jolla, California, USA Rady Children's Institute for Genomic Medicine, San Diego, California, USA PubMed articles Google scholar articles
Bryan J Traynor Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institutes of Health, Bethesda, Maryland, USA Neurology, Johns Hopkins University, Baltimore, Maryland, USA PubMed articles Google scholar articles
Amal M Alhashem Pediatrics, Prince Sultan Military Medical City, Riyadh, Al Riyadh, Saudi Arabia PubMed articles Google scholar articles
Matloob Azam Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Pakistan PubMed articles Google scholar articles
Laila Selim Pediatric Neurology, Cairo University, Cairo, Egypt PubMed articles Google scholar articles
Laila Bastaki Kuwait Medical Genetics Centre, Maternity Hospital, Shuwaikh, Kuwait PubMed articles Google scholar articles
Hanan I Elbastawisy Ophthalmic Genetics, Research Institute of Ophthalmology, Sulaibikhat, Egypt PubMed articles Google scholar articles
Samia Temtamy Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt PubMed articles Google scholar articles
Maha Zaki Clinical Genetics, National Research Centre, Cairo, Egypt PubMed articles Google scholar articles
Joseph G Gleeson Rady Children's Institute for Genomic Medicine, San Diego, California, USA Department of Neuroscience and Pediatrics, Howard Hughes Medical Institute, La Jolla, California, USA PubMed articles Google scholar articles

Correspondence to Dr Joseph G Gleeson,Department of Neuroscience and Pediatrics, Howard Hughes Medical Institute, La Jolla, California, USA; jogleeson{at}ucsd.edu

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Citation

Ghosh SG, Wang L, Breuss MW, et al

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

Journal of Medical Genetics 2020;57:274-282.

Publication history

Received June 28, 2019
Revised August 26, 2019
Accepted September 6, 2019
First published October 5, 2019.

Online issue publication

January 08, 2022

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