Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features Anide Johansen, Rasim O. Rosti, Damir Musaev, Evan Sticca, Ricardo Harripaul, Maha Zaki, Ahmet Okay Çağlayan, Matloob Azam, Tipu Sultan, Tawfiq Froukh, André Reis, Bernt Popp, Iltaf Ahmed, Peter John, Muhammad Ayub, Tawfeg Ben-Omran, John B. Vincent, Joseph G. Gleeson, Rami Abou Jamra The American Journal of Human Genetics Volume 99, Issue 4, Pages 912-916 (October 2016) DOI: 10.1016/j.ajhg.2016.07.019 Copyright © 2016 Terms and Conditions

Figure 1 Consanguineous Families with Variants in MBOAT7, Encoding LPIAT1 (A) Pedigrees of families 1 to 6 show consanguineous marriages (double bars) with a total of 16 affected children. Probands are indicated with “P.” (B) Brain MRI for one affected individual from each of families 1–3 and 6. White arrows show cortical atrophy, and red arrows show possible polymicrogyria. The American Journal of Human Genetics 2016 99, 912-916DOI: (10.1016/j.ajhg.2016.07.019) Copyright © 2016 Terms and Conditions

Figure 2 Location of Variants and Domains in MBOAT7, Encoding LPIAT1 (A) Genetic structure of MBOAT7. Mutations are indicated by red arrows (exons and numbers as in GenBank: NM_024298.3). In-solution exome capture was performed with the SureSelect Human All Exome 50 Mb Kit (Agilent Technologies) with 125 bp paired-end read sequences generated on a HiSeq2000 or HiSeq2500 (Illumina). Scale bar represents 2 kb. (B) Structure of LPIAT1, which harbors five transmembrane domains and one catalytic acyltransferase domain. Variants are indicated with red lines. Amino acid numbers are provided above. The American Journal of Human Genetics 2016 99, 912-916DOI: (10.1016/j.ajhg.2016.07.019) Copyright © 2016 Terms and Conditions