ARTS syndrome Flashcards
1
Q
What are the symptoms of ARTS syndrome?
A
Boys
- sensorineural hearing loss
- weakened immune system and recurrent infections
- hypotonia–> impaired muscle coordination
- developmental delay
- intellectual disability
- optic atrophy–> degenerative of nerves causing vision loss
- peripheral neuropathy–> loss of sensation in limbs
Girls
- other symptoms are possible, but they are common asymptomatic
- hearing loss in life
2
Q
What gene is involved in ARTS syndrome?
A
PRPS1 gene on X chromosome
3
Q
What is the inheritance pattern for ARTS syndrome?
A
X-linked recessive
Mainly occurs in boys
4
Q
What is the phenotype of the heterozygous in ARTS syndrome?
A
Heterozygous (girls) have it but are often asymptomatic
