PRINTER'S NO.  3596

  

THE GENERAL ASSEMBLY OF PENNSYLVANIA

  

HOUSE RESOLUTION

 

No.

742

Session of

2012

  

  

INTRODUCED BY HICKERNELL, REED, AUMENT, BAKER, BEAR, BRADFORD, CALTAGIRONE, D. COSTA, CREIGHTON, ELLIS, EVERETT, FLECK, GEIST, GEORGE, GILLEN, GINGRICH, GODSHALL, GOODMAN, HARHART, HESS, HUTCHINSON, KILLION, KNOWLES, KORTZ, KOTIK, KULA, MAHONEY, MANN, MARSICO, MICOZZIE, MILLARD, MURT, O'NEILL, RAPP, ROCK, ROSS, SCAVELLO, SONNEY, SWANGER, VEREB AND VULAKOVICH, MAY 23, 2012

  

  

INTRODUCED AS NONCONTROVERSIAL RESOLUTION UNDER RULE 35, MAY 23, 2012  

  

  

  

A RESOLUTION

  

1

Designating the month of July 2012 as "MECP2 Duplication

2

Syndrome Awareness Month" in Pennsylvania.

3

WHEREAS, MECP2 duplication syndrome is usually caused by

4

duplication of DNA on the Xq28 region of the chromosomes; and

5

WHEREAS, MECP2 duplication syndrome is characterized by

6

hypotonia, developmental delay, intellectual disability, limited

7

or absent speech, constipation, reflux, ataxia, progressive

8

spasticity, stereotyped movements of hands, teeth grinding,

9

recurrent respiratory infections, epilepsy and developmental

10

regression occurring in some boys; and

11

WHEREAS, While duplication of MECP2 causes many problems,

12

some boys have large duplications that include many other genes,

13

and the full extent of phenotypes due to duplication of other

14

genes is not completely understood at this time; and

15

WHEREAS, Recent studies have shown a link between MECP2

- 1 -

 


1

duplication syndrome and autism, and most boys with this

2

syndrome do have distinct features of autism; and

3

WHEREAS, Patients with MECP2 duplication syndrome have

4

multiple neurological deficits, but, thankfully, their brains

5

are not static and are highly responsive to proper stimulation,

6

such as schooling, exercise, music, age-appropriate social

7

interactions and related activities; and

8

WHEREAS, MECP2 duplication syndrome was not formally

9

recognized until 2005; and

10

WHEREAS, MECP2 duplication syndrome is most commonly

11

inherited in an X-linked manner, meaning that affected males

12

have, most commonly, inherited the MECP2 duplication from the

13

carrier mother, however, spontaneous duplications have been

14

reported. To date, no cases of a father transmitting the

15

duplication have been reported; and

16

WHEREAS, MECP2 duplication syndrome research is currently

17

taking place with efforts to reduce symptoms in mice, in hope

18

that there soon will be effective treatments for humans with

19

this disorder; therefore be it

20

RESOLVED, That the House of Representatives designate the

21

month of July 2012 as "MECP2 Duplication Syndrome Awareness

22

Month" in Pennsylvania.

- 2 -