HR0216 EnrolledLRB101 11666 ALS 58028 r


  
1
HOUSE RESOLUTION 216

  
 
2    WHEREAS, Schaaf-Yang syndrome (SYS, OMIM #615547) is a 
3rare, life-long neurodevelopmental disorder affecting multiple 
4systems; and
  
 
5    WHEREAS, SYS is caused by truncating mutations in the 
6maternally imprinted, paternally expressed MAGEL2 gene, 
7located in the Prader-Willi syndrome (PWS, OMIM #176270) 
8critical region 15q11-13 (NCBI Gene ID: 54551); and
  
 
9    WHEREAS, Since its identification in 2013, a total of 150+ 
10people worldwide have been identified as living with 
11Schaaf-Yang syndrome; and
  
 
12    WHEREAS, Schaaf-Yang syndrome shares many clinical 
13features with Prader-Willi syndrome, including hypotonia, 
14feeding difficulties during infancy, global developmental 
15delay/intellectual disability, endocrine anomalies, and sleep 
16apnea, but SYS remains distinct because  of a higher prevalence 
17of autism spectrum disorder and joint contractures; and
  
 
18    WHEREAS, Schaaf-Yang syndrome is typically diagnosed 
19through whole genome or whole exome sequencing and is not 
20routinely screened for as part of prenatal genetic testing; and
  
 
 
 
HR0216 Enrolled- 2 -LRB101 11666 ALS 58028 r

1    WHEREAS, Currently, no cure exists for Schaaf-Yang 
2syndrome, but children and adults thrive through therapies, 
3specialized care in areas, including sleep medicine and 
4endocrinology, and inclusion; and
  
 
5    WHEREAS, A SYS/MAGEL2 Advisory Group (SMAG) has been 
6established through the Foundation for Prader-Willi Research 
7(FPWR) to further advance research; therefore, be it
  
 
8    RESOLVED, BY THE HOUSE OF REPRESENTATIVES OF THE ONE 
9HUNDRED FIRST GENERAL ASSEMBLY OF THE STATE OF ILLINOIS, that 
10we declare November 1, 2019 as Schaaf-Yang Syndrome Awareness 
11Day to raise awareness, promote inclusion, encourage research, 
12and share hope.