A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children

Journal of Medical Genetics
Emily Hansen-KissGail E Herman

Abstract

It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in thePTENtumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenicPTENmutation are unclear and have not been well documented. We undertook a retrospective chart review of children (< 18  years) with pathogenicPTENmutations to ascertain clinical findings, clinical course and possible outcomes. Clinical and molecular data were collected and analysed for 47 patients withPTENmutation from 38 eligible families. Macrocephaly (average head circumference of + 5.7  SD) with developmental delay, ID and/or ASD were the most common presenting signs/symptoms (66 %). Clinical features included dermatological findings (66 %), gastrointestinal (GI) symptoms (34 %), ASD diagnosis (50 %), abnormal brain imaging (53 % of those examined) and abnormal thyroid imaging (26 %). This is the largest survey of clinical features in children withPTENpathogenic mutations to date. It confirms earlier reports of increased rates of neurodevelopmental disorders. Dermatological, GI and thyroid abnorm...Continue Reading

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