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] (Record no. 17764)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01888caa a2200265 4500 |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2046-1402 |
| 100 ## - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Desaraju Suresh Bhargav |
| 245 #0 - TITLE STATEMENT | |
| Title | 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 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2017 |
| 270 ## - ADDRESS | |
| Address | Department of Clinical Services, All India Institute of Speech and Hearing, Manasagangothri, India |
| 270 ## - ADDRESS | |
| Address | Department of Speech Language Pathology, All India Institute of Speech and Hearing, Manasagangothri, India |
| 270 ## - ADDRESS | |
| Address | Unit for Human Genetics, All India Institute of Speech and Hearing, Manasagangothri, India |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2163 |
| 490 ## - SERIES STATEMENT | |
| Volume/sequential designation | Volume 6 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | 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. |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Microcephaly, ASPM, Exome Sequencing, MCPH5, MCPH |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Soumya Vivek |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sreedevi, N. S |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Srinivas Kovvali |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Swapna, N. |
| 773 ## - HOST ITEM ENTRY | |
| Main entry heading | F1000Research |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | https://doi.org/10.12688/f1000research.12102.1 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | Faculty Publications |
| -- | FJAS |
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