Full Text of HR0216 101st General Assembly
HR0216enr 101ST GENERAL ASSEMBLY |
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| 1 | | HOUSE RESOLUTION 216
| 2 | | WHEREAS, Schaaf-Yang syndrome (SYS, OMIM #615547) is a | 3 | | rare, life-long neurodevelopmental disorder affecting multiple | 4 | | systems; and
| 5 | | WHEREAS, SYS is caused by truncating mutations in the | 6 | | maternally imprinted, paternally expressed MAGEL2 gene, | 7 | | located in the Prader-Willi syndrome (PWS, OMIM #176270) | 8 | | critical region 15q11-13 (NCBI Gene ID: 54551); and
| 9 | | WHEREAS, Since its identification in 2013, a total of 150+ | 10 | | people worldwide have been identified as living with | 11 | | Schaaf-Yang syndrome; and
| 12 | | WHEREAS, Schaaf-Yang syndrome shares many clinical | 13 | | features with Prader-Willi syndrome, including hypotonia, | 14 | | feeding difficulties during infancy, global developmental | 15 | | delay/intellectual disability, endocrine anomalies, and sleep | 16 | | apnea, but SYS remains distinct because of a higher prevalence | 17 | | of autism spectrum disorder and joint contractures; and
| 18 | | WHEREAS, Schaaf-Yang syndrome is typically diagnosed | 19 | | through whole genome or whole exome sequencing and is not | 20 | | routinely screened for as part of prenatal genetic testing; and
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| 1 | | WHEREAS, Currently, no cure exists for Schaaf-Yang | 2 | | syndrome, but children and adults thrive through therapies, | 3 | | specialized care in areas, including sleep medicine and | 4 | | endocrinology, and inclusion; and
| 5 | | WHEREAS, A SYS/MAGEL2 Advisory Group (SMAG) has been | 6 | | established 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 | 9 | | HUNDRED FIRST GENERAL ASSEMBLY OF THE STATE OF ILLINOIS, that | 10 | | we declare November 1, 2019 as Schaaf-Yang Syndrome Awareness | 11 | | Day to raise awareness, promote inclusion, encourage research, | 12 | | and share hope.
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