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.