Show simple item record

AuthorAl-Dewik, Nader
AuthorBen-Omran, Tawfeg
AuthorZayed, Hatem
AuthorTrujillano, Daniel
AuthorKishore, Shivendra
AuthorRolfs, Arndt
AuthorYassin, Mohamed A
Available date2019-01-22T11:26:20Z
Publication Date2018-12-01
Publication NameGeneen_US
Identifierhttp://dx.doi.org/10.1016/j.gene.2018.12.009
CitationAl-Dewik, N., Ben-Omran, T., Zayed, H., Trujillano, D., Kishore, S., Rolfs, A., & Yassin, M. A. (2019). Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar. Gene, 689, 34-42.
ISSN0378-1119
URIhttp://hdl.handle.net/10576/11281
AbstractClinical Exome Sequencing (CES) has increasingly become a popular diagnostic tool in patients suffering from genetic disorders that are clinically and genetically complicated. Myeloproliferative Neoplasms (MPNs) is an example of a heterogeneous disorder. In Qatar, familial cases of MPNs are more frequently seen than described in the literature. In this study, we aimed to use CES to classify six Qatari subjects that were suspected of clinical diagnosis of MPNs, according to the WHO 2008 diagnostic criteria for hematologic malignancies, and identify variants that can potentially explain the phenotypic diversity of MPNs. We sequenced six Qatari subjects using CES, of whom, three probands were unrelated families and three members were from the same family, all probands come from consanguineous families, and had a positive family history of MPNs. CES identified 61 variants in 50 genes; of which, 13 were recurrently mutated in our patients. Ten novel variants were identified in ten known genes related to MPNs and seven variants were identified in seven novel candidate genes. The genotype of the six subjects was due to a combination of different variants in different genes. This study serves as a pilot study to investigate the complexity of the genotype of patients with MPNS in Qatar, and serves as a guide for further well-controlled genetic epidemiological studies for patients with MPNs. CES is a powerful tool to be used in the genetic clinics for differential and definitive diagnosis of patients with MPNs.
Languageen
PublisherElsevier
SubjectArab
SubjectCES
SubjectMPNs
SubjectMiddle East
SubjectQatar
TitleClinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar.
TypeArticle
Pagination34-42
Volume Number689


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record