Bannayan-Riley-Ruvalcaba Syndrome

Description

BRRS facebook group at www.facebook.com The DSM is a tool to help diagnose disorders that cannot be definitively seen by other tests. Fragile X, tuberous sclerosis and Rett's are often ruled out before an autism spectrum diagnosis is given. Here is yet another genetic mutation that can manifest developmental delays. "Of these 18 autistic subjects (13 males and five females; ages 3.118.4 years) with a head circumference range from 2.5 to 8.0 standard deviations above the mean, three males (17%) carried germline PTEN mutations. These three probands had previously undescribed PTEN mutations: H93R (exon 4), D252G (exon 7), and F241S (exon 7). They had the larger head circumference measurements amongst all our study subjects."

Keywords

autism, asd, pdd, pten, gene, BRRS, bannayan, riley, ruvalcaba, proteus, cowden, syndrome, Rett, fragilex

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