Table 2.

PTEN Allelic Disorders

DisorderClinical CharacteristicsComment
Apparently isolated Lhermitte-Duclos disease (LDD)Apparently isolated dysplastic gangliocytoma of the cerebellumMost (if not all) adult-onset LDD can be attributed to PTEN path vars, even if no other clinical signs of CS/BRRS. Note: Germline PTEN path vars appear rare in persons w/childhood-onset LDD. 1 Evaluated all persons w/apparently isolated LDD for other manifestations of CS/BRRS.
Autism/pervasive developmental disorder & macrocephaly (OMIM 605309)ASD & macrocephaly~10%-20% of persons w/ASD & macrocephaly have germline PTEN path vars. 2
Juvenile polyposis of infancy (JPI)
(OMIM 612242)		Juvenile polyposis diagnosed before age 6 yrs; GI manifestations (bleeding, diarrhea, & protein-losing enteropathy) are often severe.Rare condition caused by germline deletion of BMPR1A & PTEN; external stigmata of JPI may mimic BRRS.

ASD = autism spectrum disorder; BRRS = Bannayan-Riley-Ruvalcaba syndrome; CS = Cowden syndrome; GI = gastrointestinal; path var = pathogenic variant

1.
2.

From: PTEN Hamartoma Tumor Syndrome

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