Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes

Microcephaly is a genetically heterogeneous disorder and is one of the frequently notable conditions in paediatric neuropathology which exists either as a single entity or in association with other co-morbidities. More than a single gene is implicated in true microcephaly and the list is growing with the recent advancements in sequencing technologies. Using massive parallel sequencing, we identified a novel frame shift insertion in the abnormal spindle-like microcephaly-associated protein gene in a client with true autosomal recessive primary microcephaly. Exome sequencing in the present case helped in identifying the true cause behind the disease, which helps in the premarital counselling for the sibling to avoid future recurrence of the disorder in the family. Srinivas Kovvali ( ) Corresponding author: [email protected] : Investigation, Methodology, Validation, Writing – Review & Editing; : Conceptualization, Funding Author roles: Bhargav DS Sreedevi N Acquisition, Project Administration, Resources, Supervision, Writing – Review & Editing; : Conceptualization, Funding Acquisition, Swapna N Project Administration, Writing – Review & Editing; : Data Curation, Resources; : Conceptualization, Methodology, Project Vivek S Kovvali S Administration, Resources, Validation, Writing – Original Draft Preparation, Writing – Review & Editing No competing interests were disclosed. Competing interests: Bhargav DS, Sreedevi N, Swapna N How to cite this article: et al. Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive [version 1; referees: awaiting peer review] 2017, :2163 (doi: ) F1000Research 6 10.12688/f1000research.12102.1 © 2017 Bhargav DS . This is an open access article distributed under the terms of the , Copyright: et al Creative Commons Attribution Licence which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Grants to carry out the present project were provided by All India Institute of Speech and Hearing, an autonomous Institute Grant information: under Ministry of Health and Family Welfare, Government of India, India 21 Dec 2017, :2163 (doi: ) First published: 6 10.12688/f1000research.12102.1 1 2 3 1