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Title: The genetics of familial non-specific intellectual disability in the Kuwaiti population
Author: Al-Mosawi, Fatemah Hashem
ISNI:       0000 0004 5368 3781
Awarding Body: King's College London
Current Institution: King's College London (University of London)
Date of Award: 2015
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Detection of the genetic causes of non-specific intellectual disability (ID) and many neurodevelopmental disorders is a complex process, yet this information has a great impact on aiding clinical geneticists to inform families with affected members or carrier status for better decision making. Advances in technology allow the detection of smaller aberrations such as copy number variation (CNV), which have been linked to several disorders. This study aims to establish a diagnostic workflow in the Kuwait Medical Genetic Centre for heterogeneous disorders such as ID and a rare syndrome, Rubinstein-Taybi Syndrome (RTS). In 60% of RTS cases, the genetic cause is a mutation in one of two genes, with the cause unknown for the remaining cases. Different gene detection methods were evaluated in individuals from 16 consanguineous families with multiple affected sibs with non-specific ID and 10 RTS individuals. Laboratory methods of direct gene sequencing using the ABI sequencer, multiple probe-dependent ligation assay (MPLA) and the Affymetrix 2.7M cytogenetic arrays for analysis of CNVs and runs of homozygosity were used in these individuals. In addition, one family was studied further through homozygosity mapping and exome sequencing. Further confirmatory testing is required but the study produced several recommendations for the future direction of Clinical Genetic diagnosis in Kuwait as well as specific follow up options on the potential causative CNVs.
Supervisor: Collier, David A. ; Lewis, Cathryn Mair ; Breen, Gerome Daniel Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available