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PTEN mutation in a family with Cowden syndrome and autism
A Goffin1, L H Hoefsloot, E Bosgoed
1Center for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium.
Insights
Cowden syndrome, linked to PTEN mutations, can present with autistic behaviors in some individuals. Progressive macrocephaly and developmental disorders suggest screening for PTEN mutations in Cowden syndrome patients.
Area of Science:
- Genetics
- Developmental Neuroscience
- Clinical Medicine
Background:
- Cowden syndrome is a rare genetic disorder associated with an increased risk of cancer.
- PTEN mutations are the primary genetic cause of Cowden syndrome.
- Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by challenges with social interaction and communication.
Observation:
- A mother and son diagnosed with Cowden syndrome, both carrying a PTEN mutation.
- The son exhibits autistic behavior and intellectual disability.
- The mother, despite the same mutation, has normal intelligence and social functioning.
Findings:
- This case highlights variability in clinical presentation of Cowden syndrome, even within the same family.
- The co-occurrence of Cowden syndrome, PTEN mutation, and autistic features in the son is noted.
- Literature review reveals limited data on the association between Cowden syndrome and autism.
Implications:
- Progressive macrocephaly and pervasive developmental disorders in Cowden syndrome patients may warrant PTEN mutation screening.
- Further research is needed to understand the genotype-phenotype correlations in PTEN-related disorders.
- Early identification of PTEN mutations can aid in personalized management and surveillance strategies for affected individuals.
Abstract:
We report on a mother and son with Cowden syndrome and a PTEN mutation. The boy also exhibits autistic behavior and mental retardation, while his mother has a normal intelligence and social interaction pattern. We review the scanty literature data on the association of Cowden syndrome and autism and emphasize that the association of progressive macrocephaly and pervasive developmental disorder seems to be an indication for screening for PTEN mutations.