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PRINTER'S NO. 3683
THE GENERAL ASSEMBLY OF PENNSYLVANIA
HOUSE RESOLUTION
No.
977
Session of
2018
INTRODUCED BY HICKERNELL, BENNINGHOFF, BERNSTINE, CALTAGIRONE,
CUTLER, DAY, DUSH, EVERETT, FEE, GILLEN, HEFFLEY, HENNESSEY,
HILL-EVANS, LONGIETTI, MENTZER, MILLARD, MURT, NEILSON,
B. O'NEILL, QUIGLEY, M. QUINN, REED, ROTHMAN, RYAN, SAYLOR,
SCHLOSSBERG, SONNEY, TOOHIL, ZIMMERMAN AND BRADFORD,
JUNE 13, 2018
INTRODUCED AS NONCONTROVERSIAL RESOLUTION UNDER RULE 35,
JUNE 13, 2018
A RESOLUTION
Designating the month of July 2018 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 causes many problems and
is typically 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 in boys; and
WHEREAS, 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 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, with affected males most
commonly inheriting the MECP2 duplication from the carrier
mother, but 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 for the future
development of effective treatments for humans with this
disorder; therefore be it
RESOLVED, That the House of Representatives designate the
month of July 2018 as "MECP2 Duplication Syndrome Awareness
Month" in Pennsylvania.
20180HR0977PN3683 - 2 -
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