18 Apr Gene Linked To X-linked Intellectual Disability Identified In Less Than A Day
MedicalResearch.com Interview with:
Daryl Armstrong Scott, M.D., Ph.D
Associate Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: This case started with a male child with intellectual disability, developmental delay, hypotonia, hypermobile joints and relative macrocephaly (large head size). Clinical testing showed that he carried a small deletion on chromosome Xp11.22. Since the deleted region had not been previously associated with human disease, the patient was referred to our clinic for additional testing. However, a more detailed analysis revealed that mice that were missing one of the genes located in the deletion interval, Maged1, had neurocognitive and neurobehavioral problems. This sparked additional inquiries which resulted in the identification of three other males from two other families who carried small, overlapping Xp11.22 deletions and had similar features. In all cases, their deletions were inherited from their asymptomatic mothers.
We concluded that deletion of an ~430 kb region on chromosome Xp11.22 that encompasses two pseudogenes (CENPVL1 and CENPVL2) and two protein-coding genes (MAGED1 and GSPT2) causes a novel, syndromic form of X-linked intellectual disability characterized by developmental delay, hypotonia, hypermobile joints and relative macrocephaly.
MedicalResearch.com: What should readers take away from your report?
Response: Novel discoveries can be made when physicians and scientists combine data from animal models with clinical and molecular data from human patients.
MedicalResearch.com: What recommendations do you have for future research as a result of this study?
Response: Additional work will be needed to determine with certainty which genes are contributing to the various medical problems seen in individuals with this new genetic syndrome.
MedicalResearch.com: What recommendations do you have for future research as a result of this study?
Response: Additional work will be needed to determine with certainty which genes are contributing to the various medical problems seen in individuals with this new genetic syndrome.
MedicalResearch.com: Is there anything else you would like to add?
Response: All of the patients described in this manuscript were identified in a period of less than 8 hours using a combination of online and clinical databases. It has never been easier to identify patients around the world who have the same molecular diagnosis.
The authors of this manuscript have the following competing interests: DAS is a member of the Clinical Advisory Board of Baylor Genetics. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from genetic analyses offered through Baylor Genetics. Baylor Genetics did not play a role in the study design, data collection and analysis, decision to publish, or preparation of this manuscript and only provided financial support in the form of salaries for FX and SWC.
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Last Updated on April 18, 2017 by Marie Benz MD FAAD