
raina syndrome

austiosclerotic boonn dysplasia ennum ariyappedunna reyne syndrome (rns), microsephaly, sradheyamaaya thaazhnna settu chevikal, austiosclerosis, oru pilarnna annaakk, gumm hyperplasia, hypoplastic mookk, aii proptosis ennivayulppedeyulla craniophasial apakathakal ulla oru apoorva autosomal resussive konjenittal disorderaanu. ithu oru maaraka rogamaayi kanakkaakkappedunnu, ithu saadhaaranayaayi janichu eathaanum manikkoorukalkullil maranathilekku nayikkunnu. ennirunnaalum, raine syndrome ulla kuttikal 8,11 vayass vare jeevicha rund padanangalekkurichu sameepakaala report vivarikkunnu, athinaal phenotypine edukkaan kazhiyunna oru mithamaaya aavishkaaram undennu nilavil nirddeshikkappedunnu (simpson 2009).
janithakashasthram.
raine syndrome oru autosomal resussive rogamaanennu thonnunnu. ore maathaapithaakkalil ninnu janicha kuttikalil aavarthanavum adutha bandhamullathum janithakaparamayi samaanamaayathumaaya maathaapithaakkalude kuttikalil vardhicha sambhavavum report cheyyappettittund. raine syndrome ulla vyakthikal faama 20siyude mutationu vendi homocygus allengil samyuktha heterosaigas aayirunnu. svayambharanaadhikaaramillaatha mutation splies-saitt maattangalum (simpson thudangiyavar) nireekshikkappettundu. 2007).
chromosomil 7p22.3 sthithi cheiyunna phaam20sii, asthi vikasanathile oru pradhana thanmathrayaanu. elikalile padanangal aadyakaala vikasanathil pallukalile ellukalude dhaathuvalkkaranathil athinte praadhaanyam theliyichittundu (oom, simpson thudangiyavar. 2007, wang thudangiyavar. 2010). phaam20sii ennaal "sequence samaanathayulla kudumbam 20, amgam sii.ithine saadhaaranayaayi dii. emm. pii-4 ennum vilikkunnu. ithu oru golji sambushtamaaya fraction keysin kinace extra sellular serin/thrionin protein kainesumaanu. 10 exonukalum 584 amino aasidukalum (weisman instittyoott oof sayans) ulla 107,743 bays neelamullathaanu ithu.
gaveshanam.
nilavile gaveshanam raine syndrome oru navjata austiosclerotic boonn displassiayaayi vivarikkunnu, ithu rogamullavaril kaanapedunna austiosclerotic lakshanangalal soochippikkunnu. fammy20sii jeenil vanna oru parivarthanamaanu raine syndrome phenotypine kaaranamenn kandethiyittundu. eee micro deletion mutation asaadhaaranamaaya oru chromosome 7 krameekaranatthilekku nayikkunnu. simpsante 2007 leeii reportil vivarichathupolulla raine syndrominte neriya phenotypeukal soochippikkunnathu, missense mutationukal moolamundaakunna raine syndrome mattu vivaricha mutationukal (omim) pole maarakamayirikkilla ennaanu. fradin muthalaayavaril ninnulla kandethalukal ithine pinthunaykkunnu. (2011), faama 20siyilekku missense mutationukalulla kuttikalekkurichu report cheyyukayum onnum naalum vayass vare jeevikkukayum cheythu, munbu report cheytha kuttikalude ayuss thaarathamyena valare kooduthalaanu. simpson thudangiyavar.'innuvare, rogabadhitharaaya vyakthikalkk 7 yoonipaarantal isodysomy 7pii telomeric microdilition undennu 2007leeii report parayunnu. avaykku asaadhaaranamaaya chromosome 7 krameekaranangal undaayirunnu, avayude dii 7 ezz 2477, dii 7 ezz 1484 markerukal (simpson 2007) ennivayude micro deletionukal undaayirunnu.
charithram.
1989ll anjjaathamaaya oru syndrome ulla oru sisuvinekkurichu prasidheekaricha oru reportilaanu ithu aadyamaayi avatharippichathu, athu pinneedu raine syndrome ennu vilikkapettu.