Bannayan-Riley-Ruvalcaba Syndrome

BRRS facebook group at
http://www.facebook.com/group.php?gid=246481759870

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."

Category:

Education

Tags:

• autism
• asd
• pdd
• pten
• gene
• BRRS
• bannayan
• riley
• ruvalcaba
• proteus
• cowden
• syndrome
• Rett
• FragileX

[Koyko200]

They said my dad had it. My sister and brother has it too. They say I may have. My mom said it would explain everything since birth if I have it.

[wiscsuzski]

@Koyko200 That's how I feel about finding this diagnosis for my son - it explains everything since birth.

[Denisha1980]

i have a 9 year that is diagnosed with the same thing

[wiscsuzski]

@Denisha1980 Hi there. If you are on facebook, and want to connect with more people about this and other PTEN syndromes, try PTEN World or syndrome de bannayan riley ruvalcaba

[Haparanda9]

Thank you for telling about this. My daughter might have BRRS, and we have so very little information about it. The doctors where we live also have very limited knowledge about the syndrome. What they know is that she has many of the symptoms(birth weight 4,6, 58 cm long, gigantic head, hypontonic etc), and they've found that a part of her PTEN gene is missing, but apperantly not a importaint part of the gene. They say its not mutated the same place as Banyan Riley syndrome ususually is.

[wiscsuzski]

@Haparanda9 Hi! I wonder how many ways a PTEN gene mutation can be called BRRS. The syndrome sure can have many different forms! There are several groups on the internet that talk about PTEN problems. I will message you some links.

[Andrea7inArkansas]

Ezra is so gorgeous. I believe I've seen you guys online before seeing this and may have even spoken to you on a forum. I have Cowden's as do my children who are almost 8 and 6. It's incredible how many similarities---my son had a 15 3/4ths" head at birth and daughter 14 3/4ths". Ezra's head growth chart looks just like my kids'. My 6 year old has autism as well. I'm grateful to see this on youtube because there's not a lot of awareness of PTEN mutations. Thank you for this.

[Koyko200]

@wiscsuzski

I'm hoping it will for me. I have learning disabilities and it is making it extremely hard to learn in college. We are trying to find answers.

[trishmatsonbuus]

Wow. So many similarities to my son!

Nathaniel is 4.5yrs old now. Born 8lbs, 4.5oz. 15.5 in head circum. Head CT at 6 months & MRI of the head at 18 months were both fine. Speech delay and other fairly minor delays---Birth to Three program worked with him from 14 months to 3 years with Speech Therapy & OT, both twice a week. When he turned 3, he was found to be eligibility for services through the school district, although he also attends a 'regular' preschool, too. (continued)

[trishmatsonbuus]

Wow. So many similarities to my son!

Nathaniel is 4.5yrs old now. Born 8lbs, 4.5oz. 15.5 in head circum. Head CT at 6 months & MRI of the head at 18 months were both fine. Speech delay and other fairly minor delays---Birth to Three program worked with him from 14 months to 3 years with Speech Therapy & OT, both twice a week. When he turned 3, he was found to be eligibility for services through the school district, although he also attends a 'regular' preschool, too. (continued)