000			01888caa a2200265 4500
008			210629s9999 xx 000 0 und d
022			_a2046-1402
100			_aDesaraju Suresh Bhargav
245		0	_a 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]
260			_c2017
270			_aDepartment of Clinical Services, All India Institute of Speech and Hearing, Manasagangothri, India
270			_aDepartment of Speech Language Pathology, All India Institute of Speech and Hearing, Manasagangothri, India
270			_aUnit for Human Genetics, All India Institute of Speech and Hearing, Manasagangothri, India
300			_a2163
490			_vVolume 6
520			_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.
653			_aMicrocephaly, ASPM, Exome Sequencing, MCPH5, MCPH
700			_aSoumya Vivek
700			_aSreedevi, N. S
700			_aSrinivas Kovvali
700			_aSwapna, N.
773			_aF1000Research
856			_uhttps://doi.org/10.12688/f1000research.12102.1
942			_cFJAS _yFJAS
999			_c17764 _d17764