01832caa a2200241   4500008004100000022001400041100002800055245019200083260000900275270010300284270011100387270009500498300000900593490001300602520077900615653005401394700001701448700001901465700002101484700001601505773001801521856005101539210629s9999    xx            000 0 und d  a2046-1402  aDesaraju Suresh Bhargav 0a Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive [version 1; peer review: 2 approved]   c2017  aDepartment of Clinical Services, All India Institute of Speech and Hearing, Manasagangothri, India  aDepartment of Speech Language Pathology, All India Institute of Speech and Hearing, Manasagangothri, India  aUnit for Human Genetics, All India Institute of Speech and Hearing, Manasagangothri, India  a2163  vVolume 6  aMicrocephaly 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.  aMicrocephaly, ASPM, Exome Sequencing, MCPH5, MCPH  aSoumya Vivek  aSreedevi, N. S  aSrinivas Kovvali  aSwapna, N.   aF1000Research  uhttps://doi.org/10.12688/f1000research.12102.1