Molecular basis of Pierpont syndrome

Pierpont syndrome is an entity characterized by marked intellectual disability,
unusual face, and abnormal fat depositions. Affected individuals develop
epilepsy and show a progressively difficult behaviour. A single boy had a brain
tumour as a young child. There is at present no therapy to influence the
natural history of the entity. The cause is unknown and we assume it is an
autosomal dominant de novo mutation.

1,detection of the gene causing Pierpont syndrome
2. study of the molecular and cellular mechanisms leading to the various
manifestations of Pierpont syndrome
3. better understanding of the regulation of subcutaneous fat depositions

Whole exome sequencing of 3 persons with the clinical diagnosis Pierpont
syndrome, and of one of them also the parents for trio analysis (vcomparison
of variants in results of child with those in parents); if results provide
insufficient information whole exome sequencing will also be performed in the
parents of the two other patients.

The risk of blood sampling is limited. There is no benefit of participating in
this study to the participants themselves but there is a group benefit as the
study should provide essential information needed for adequate genetic
counselling and future interventions with respect to epilepsy and behaviour.