Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability

Kathrin Blaesius^{1

2

3

4}, Ansar A Abbasi⁵, Tufail H Tahir⁶, Anna Tietze⁷, Sylvie Picker-Minh^{1

2

3

4}, Ghazanfar Ali⁸, Sundas Farooq⁵, Hao Hu⁹, Zahid Latif¹⁰, Muhammad N Khan¹⁰, Angela Kaindl^{1

2

3

4}

Affiliations

¹ Institute of Neuroanatomy and Cell Biology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
² Berlin Institute of Health (BIH), Berlin, Germany.
³ Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁴ Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁵ Department of Zoology, Mirpur University of Science and Technology (MUST), Mirpur, Pakistan.
⁶ Poonch Medical College, Rawalakot, Azad Kashmir, Pakistan.
⁷ Institute of Neuroradiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁸ Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
⁹ Guangzhou Women and Children's Medical Center, Guangzhou, China.
¹⁰ Department of Zoology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.

Case Reports

Kathrin Blaesius et al. Am J Med Genet A. 2018 Nov.

. 2018 Nov;176(11):2517-2521.

doi: 10.1002/ajmg.a.38631. Epub 2018 Oct 5.

¹ Institute of Neuroanatomy and Cell Biology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
² Berlin Institute of Health (BIH), Berlin, Germany.
³ Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁴ Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁵ Department of Zoology, Mirpur University of Science and Technology (MUST), Mirpur, Pakistan.
⁶ Poonch Medical College, Rawalakot, Azad Kashmir, Pakistan.
⁷ Institute of Neuroradiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁸ Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
⁹ Guangzhou Women and Children's Medical Center, Guangzhou, China.
¹⁰ Department of Zoology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.

No abstract available

Keywords: cystic leukomalacia; intellectual disability; isolated inferior vermian hypoplasia; microcephaly; tRNA methyltransferases.

Publication types