Activities per year
The 5 individuals were part of the MUIR cohort who were included in the UK10K study and were reported to have missense mutations in the SYNGAP1 gene. These mutations were confirmed by subsequent Sanger sequencing.
The five adults (aged 52 -77) described all have a mild intellectual disability (IQ 50-70); three of the five have epilepsy and four of the five are obese. In addition, two individuals have schizophrenia, 2 have unipolar major depression, and one has bipolar affective disorder.
This study suggests that mutations in the gene contribute to an even wider range of associated phenotypes than previously described. In particular, we describe phenotypes present in older adults with mutations in SYNGAP1.
|Publication status||Published - 12 Oct 2017|
|Event||18th International Fragile X and Related Neurodevelopmental Disorders Workshop - Hotel Sacacomie, Montreal, Canada|
Duration: 12 Oct 2017 → 16 Oct 2017
|Conference||18th International Fragile X and Related Neurodevelopmental Disorders Workshop|
|Abbreviated title||18th XLID Workshop|
|Period||12/10/17 → 16/10/17|
- Intellectual Disability
FingerprintDive into the research topics of 'Towards understanding the range of SYNGAP1-associated phenotypes: A case series of 5 adults with SYNGAP1 mutations'. Together they form a unique fingerprint.
- 1 Participation in workshop, seminar, course
Andrew McKechanie (Participant)12 Oct 2017 → 16 Oct 2017
Activity: Participating in or organising an event types › Participation in workshop, seminar, course