De Novo Rates
Rett Syndrome
What is almost 100%
An autosomal Dominant CAG repeat expansion disorder involving cognitive decline, personality changes and progressive motor disability
What is Huntington Disease
Most common inherited cause of intellectual disability
What is fragile X syndrome?
The molecular test that determines whether an individual has Prader-Willi syndrome or Angelman syndrome due to deletion, UPD, or imprinting defects
What is DNA methylation analysis?
I have dozens of hamartomatous GI polyps, macrocephaly, and thyroid cancer
What is Cowden Syndrome?
NF1
What is 50% or 1/2
Males with intellectual disability, prominent ears involving gene FMR1
What is fragile X syndrome?
Most common skeletal dysplasia
What is achondroplasia?
Loss of methylation on the maternal allele at 11p15 resulting in overgrowth, macroglossia, omphalocele, and embryonal tumor risk.
What is Beckwith-Wiedemann Syndrome?
I have tall stature, lens dislocation, aortic root dilation, and arachnodactyly
What is Marfan syndrome?
Achondroplasia
What is 80% or 4/5
An autosomal dominant CAG repeat in the ATXN gene involving incoordination, speech and swallowing difficulties
What is Spinocerebellar ataxia?
Most common inherited cancer syndrome
What is Lynch Syndrome?
Gain of methylation of the maternal SNURF-SNRPN region causes severe developmental delay, seizures, ataxia, and inappropriate laughter
What is Angelman Syndrome?
I developed bilateral vestibular schwannomas in my twenties and now have hearing loss
What is NF2?
Duchenne Muscular Dystrophy
What is 1/3?
An autosomal recessive condition involving GAA repeats in the FXN gene that leads to slowly progressive ataxia, cardiomyopathy, and diabetes
What is Freidrick Ataxia?
Most common inherited cause of kidney failure
What is Autosomal dominant polycystic kidney disease ?
Loss of methylation at the maternal imprinting region on chromosome 15 causes hypotonia, hyperphagia, and obesity.
What is Prader-Willi syndrome?
I have multiple head and neck paragangliomas, and several family members on my father’s side have had similar tumors. My GC explained that my condition is inherited in an autosomal dominant manner but usually only causes disease when inherited from my father (Condition and gene)
hereditary paraganglioma and pheochromocytoma due to SDHD pathogenic variant
Tuberous Sclerosis Complex
What is 2/3?
An autosomal dominant condition where you must check the grip
What is Myotonic Dystrophy 1 or DM1?
Most common inherited gene causing hearing loss
What is GJB2?
loss of methylation in paternal chromosome 11 or maternal uniparental disomy of chromosome 7
What is Russel Silver?
As an infant, I developed coarse facial features, hepatosplenomegaly, joint stiffness, developmental delay, corneal clouding, and progressive cardiac disease. My urine shows elevated glycosaminoglycans, and enzyme testing confirmed α-L-iduronidase deficiency
What is Hurler Syndrome?