THE GENERAL ASSEMBLY OF PENNSYLVANIA

HOUSE RESOLUTION

INTRODUCED BY HICKERNELL, REED, ADOLPH, BAKER, BEAR, BELFANTI, BEYER, BOYD, BRADFORD, CALTAGIRONE, CAUSER, CIVERA, COHEN, CONKLIN, D. COSTA, CREIGHTON, DeWEESE, DiGIROLAMO, DONATUCCI, EVERETT, FAIRCHILD, GABLER, GEORGE, GINGRICH, GODSHALL, GOODMAN, GRUCELA, HELM, HENNESSEY, HESS, HUTCHINSON, KILLION, KORTZ, KOTIK, KULA, MAJOR, MARSICO, MELIO, MILLARD, MURT, MUSTIO, OBERLANDER, O'NEILL, PAYNE, PHILLIPS, QUIGLEY, READSHAW, REICHLEY, ROSS, SAINATO, SANTONI, SAYLOR, SCAVELLO, SIPTROTH, STERN, STEVENSON, SWANGER, TRUE, VULAKOVICH AND YOUNGBLOOD, MARCH 24, 2010

INTRODUCED AS NONCONTROVERSIAL RESOLUTION UNDER RULE 35, MARCH 24, 2010  

A RESOLUTION

Designating the month of July 2010 as "MECP2 Duplication

Syndrome Awareness Month" in Pennsylvania.

WHEREAS, MECP2 duplication syndrome is a neurological

disorder that occurs almost exclusively in boys; and

WHEREAS, MECP2 duplication syndrome is usually caused by

duplication of DNA on the Xq28 region of the chromosome; 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, but, to date, no cases of a father transmitting the

duplication have been reported; and

WHEREAS, MECP2 is the gene known to cause the neurological

problems in MECP2 duplication syndrome; 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, MECP2 duplication syndrome is characterized by

hypotonia, developmental delay, mental retardation, limited or

absent speech, constipation, reflux, ataxia, progressive

spasticity, stereotyped movements of hands, teeth grinding,

recurrent respiratory infections in 80%, epilepsy in 50% and

developmental regression occurring in some boys; and

WHEREAS, Recent studies have shown a link between MECP2 

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 research is currently

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

that there will be effective treatments for humans with this

disorder soon; therefore be it

RESOLVED, That the House of Representatives designate the

month of July 2010 as "MECP2 Duplication Syndrome Awareness

Month" in Pennsylvania.