| PRINTER'S NO. 1970 |
THE GENERAL ASSEMBLY OF PENNSYLVANIA
HOUSE RESOLUTION
No. | 357 | Session of 2013 |
INTRODUCED BY HICKERNELL, REED, AUMENT, BAKER, BENNINGHOFF, BROOKS, V. BROWN, CALTAGIRONE, COHEN, CUTLER, DENLINGER, DiGIROLAMO, DONATUCCI, EVERETT, FLECK, FLYNN, GILLEN, GINGRICH, GODSHALL, GOODMAN, HEFFLEY, HESS, KILLION, KORTZ, KOTIK, LONGIETTI, MAJOR, MILLARD, MILNE, MURT, READSHAW, ROCK, ROSS, SONNEY AND TOOHIL, JUNE 10, 2013
INTRODUCED AS NONCONTROVERSIAL RESOLUTION UNDER RULE 35, JUNE 10, 2013
A RESOLUTION
1Designating the month of July 2013 as "MECP2 Duplication
2Syndrome Awareness Month" in Pennsylvania.
3WHEREAS, MECP2 duplication syndrome is usually caused by
4duplication of DNA on the Xq28 region of the chromosomes; and
5WHEREAS, MECP2 duplication syndrome is characterized by
6hypotonia, developmental delay, intellectual disability, limited
7or absent speech, constipation, reflux, ataxia, progressive
8spasticity, stereotyped movements of hands, teeth grinding,
9recurrent respiratory infections, epilepsy and developmental
10regression occurring in some boys; and
11WHEREAS, While duplication of MECP2 causes many problems,
12some boys have large duplications that include many other genes,
13and the full extent of phenotypes due to duplication of other
14genes is not completely understood at this time; and
15WHEREAS, Recent studies have shown a link between MECP2
1duplication syndrome and autism, and most boys with this
2syndrome do have distinct features of autism; and
3WHEREAS, Patients with MECP2 duplication syndrome have
4multiple neurological deficits, but, thankfully, their brains
5are not static and are highly responsive to proper stimulation,
6such as schooling, exercise, music, age-appropriate social
7interactions and related activities; and
8WHEREAS, MECP2 duplication syndrome was not formally
9recognized until 2005; and
10WHEREAS, MECP2 duplication syndrome is most commonly
11inherited in an X-linked manner, meaning that affected males
12have, most commonly, inherited the MECP2 duplication from the
13carrier mother, however, spontaneous duplications have been
14reported. To date, no cases of a father transmitting the
15duplication have been reported; and
16WHEREAS, MECP2 duplication syndrome research is currently
17taking place with efforts to reduce symptoms in mice, in hope
18that there soon will be effective treatments for humans with
19this disorder; therefore be it
20RESOLVED, That the House of Representatives designate the
21month of July 2013 as "MECP2 Duplication Syndrome Awareness
22Month" in Pennsylvania.