Download - Stickler Syndrome: A Family Story
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Stickler Syndrome:A Family StoryPaula Goldenberg, MD, MSW, MSCE18th American Stickler Syndrome ConferenceDenver, ColoradoJuly 12, 2014
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•Stickler Syndrome Basics•What causes Stickler Syndrome?•How Stickler Syndrome is passed down in
families?•How can we modify our genetic risk?•What can we do to be in the best health
possible?
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Stickler Syndrome
•Common (1:7500-1:9000 births)•Hereditary arthro-ophthalmopathy•Hearing loss is common in people with
Stickler syndrome•Most common genetic association in
patients with Pierre Robin sequence•Can affect many individuals in a family
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Stickler SyndromeEye Findings
•High Myopia•Retinal tears and detachment•Glaucoma•Cataracts
Snead MP, Eye 2011;1389-1400
http://epharmapedia.com
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Joints
•Joint laxity•Tall thin stature•Degenerative Arthropathy•Scoliosis
Snead, MP; J Med Genet 36:353-359
http://www.qt.com.au
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Craniofacial
•People with Stickler syndrome can resemble each other as well as their families
•U-shaped cleft palate•Bifid uvula•Pierre-Robin Sequence
http://ginoyton.com
Antunes RB, J Plastic Recon Aesth Surg 2012: 1029
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Hearing Loss
•80%•Hypermobility•Conductive•Sensorineural•Mixed•Can worsen
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Heart
•Mitral valve prolapse
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•Stickler Syndrome Basics•What causes Stickler Syndrome?•How Stickler Syndrome is passed down in
families?•How can we modify our genetic risk?•What can we do to be in the best health
possible?
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What causes Stickler syndrome?
•Collagen: the gel, the cushion, and the girders
•Compressible, Structural (crosslinking)
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Where is collagen?
•Joints•Bones•Cornea and vitreous (eye)•Skin•Intestines•Spinal disks•Dentin (teeth)•Muscle•Usually made by fibroblasts
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Collagen: Many varieties!•Type I-Type XXVIII!•Each type has different properties and uses•1,000 identified disease-causing mutations•Different types of collagen mutations can
cause▫Brittle Bone Disease (osteogenesis imperfecta)▫Ehlers-Danlos Syndromes (many types)▫Alport Syndrome (kidney failure and hearing
loss)▫Stickler Syndrome▫And many, many others
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Collagen 9A1
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What does COL9A1 do?
•Works with collagen 2•In hyaline cartilage (articular joints)
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•Stickler Syndrome Basics•What causes Stickler Syndrome?•How Stickler Syndrome is passed down in
families?•How can we modify our genetic risk?•What can we do to be in the best health
possible?
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Stickler SyndromeFamily Matters
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Stickler Syndrome
•Majority of patients have a parent with Stickler syndrome
•If a patient is the first person with Stickler syndrome in the family we call this a de novo deletion
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Chromosomes
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Stickler Syndrome Inheritance
•Two types▫Autosomal Dominant▫Autosomal Recessive
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Autosomal Dominant InheritanceAffected Parent to Affected Child
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Genes in Autosomal Dominant Stickler Syndrome•COL2A1: 80-90% Autosomal Dominant
▫Membranous vitreous anomaly with mild hearing loss
•COL11A1: 10-20% Autosomal Dominant▫Beaded vitreous anomaly with significant
hearing loss•COL11A2: Rare Autosomal Dominant
▫“Non-ocular” Stickler Syndrome
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Autosomal RecessiveParents are carriers and not affected
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Genes in Autosomal Recessive Stickler Syndrome•COL9A1: Very Rare; Autosomal recessive
▫3 families•COL9A2: Very Rare; Autosomal recessive
▫Two children in one family
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•Stickler Syndrome Basics•What causes Stickler Syndrome?•How Stickler Syndrome is passed down in
families?•How can we modify our genetic risk?•What can we do to be in the best health
possible?
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Genetic Counseling: Low Tech• Autosomal dominant 50% risk with each
pregnancy• Autosomal recessive 25% risk with each
pregnancy• Level II ultrasound 18-20 weeks: micrognathia• For parents with all types of Stickler Syndrome
▫Amniocentesis or CVS If familial mutation(s) known
▫Donor Egg▫Donor Sperm▫Adoption
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Genetic Counseling: High Tech
•If we know the gene mutation in the family
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•Stickler Syndrome Basics•What causes Stickler Syndrome?•How Stickler Syndrome is passed down in
families?•How can we modify our genetic risk?•What can we do to be in the best
health possible?
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Unfortunately, this is not the answer
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Genetics Clinic
OphthalmologyRheumatologyOrthopedics
AudiologyCraniofacial
Cardiology
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Excellent Care: it takes a village!
• Ophthalmology• Orthopedics• Rheumatology• Audiology• Craniofacial Team (Clefts, Pierre Robin)• Oral Maxillofacial Specialists• Cardiology• Genetics
▫Genetic Testing▫Can be a quarterback for the team▫Surveillance
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The village continued…
•Physical Therapy•Occupational Therapy•Physical Medicine and Rehabilitation•Vision Therapy•Hearing Aid Specialist•Social Work•Stickler Involved People•Stickler Syndrome Support Group (UK)•Facebook networks
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Many Thanks To
•Our patients and families affected by Stickler syndrome
•Dr. Ruth Lieberfarb•Dr. David Sweetser•Dr. Joseph Thakuria
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http://wendylhughes.blogspot.com/2012_06_01_archive.html