PRINTER'S NO. 3562
THE GENERAL ASSEMBLY OF PENNSYLVANIA
HOUSE RESOLUTION
No.
937
Session of
2015
INTRODUCED BY HICKERNELL, REED, COHEN, KIRKLAND, BAKER,
LONGIETTI, TOOHIL, DUSH, SONNEY, FEE, D. COSTA, VEREB,
TOEPEL, HENNESSEY, WARD, CAUSER, ELLIS, MILLARD, HARHART,
CUTLER, GIBBONS, ROSS, O'NEILL, MENTZER, NEILSON, A. HARRIS,
READSHAW, PAYNE, GOODMAN, WHEELAND, GINGRICH, KINSEY,
DONATUCCI, MARSICO, MAJOR, BRADFORD, SAYLOR, ZIMMERMAN,
EVERETT, GILLEN, MILNE AND PHILLIPS-HILL, JUNE 20, 2016
INTRODUCED AS NONCONTROVERSIAL RESOLUTION UNDER RULE 35,
JUNE 20, 2016
A RESOLUTION
Designating the month of July 2016 as "MECP2 Duplication
Syndrome Awareness Month" in Pennsylvania.
WHEREAS, MECP2 duplication syndrome is usually caused by
duplication of DNA on the Xq28 region of the chromosomes; and
WHEREAS, MECP2 duplication syndrome is characterized by
hypotonia, developmental delay, intellectual disability, limited
or absent speech, constipation, reflux, ataxia, progressive
spasticity, stereotyped movements of hands, teeth grinding,
recurrent respiratory infections, epilepsy and developmental
regression occurring in some boys; and
WHEREAS, While duplication of MECP2 causes many problems,
some boys have large duplications that include many other genes,
and the full extent of phenotypes due to duplication of other
genes is not completely understood at this time; and
WHEREAS, Recent studies have shown a link between MECP2
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duplication syndrome and autism, and most boys with this
syndrome do have distinct features of autism; and
WHEREAS, Patients with MECP2 duplication syndrome have
multiple neurological deficits, but, thankfully, their brains
are not static and are highly responsive to proper stimulation,
such as schooling, exercise, music, age-appropriate social
interactions and related activities; and
WHEREAS, MECP2 duplication syndrome was not formally
recognized until 2005; and
WHEREAS, MECP2 duplication syndrome is most commonly
inherited in an X-linked manner, meaning that affected males
have, most commonly, inherited the MECP2 duplication from the
carrier mother, however, spontaneous duplications have been
reported; and
WHEREAS, To date, no cases of a father transmitting the
duplication have been reported; and
WHEREAS, MECP2 duplication syndrome research, which has shown
that symptoms of the disorder can be reversed in mice using a
small antisense oligonucleotide, gives hope that there soon will
be effective treatments for humans with this disorder; therefore
be it
RESOLVED, That the House of Representatives designate the
month of July 2016 as "MECP2 Duplication Syndrome Awareness
Month" in Pennsylvania.
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