COL2A1 유전자의 새로운 돌연변이에 의한 제 1형 Stickler 증후군으로 진단된 1례

Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia, short stature and arthrogryposis. Radiological evaluation also showed irregularity...

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Bibliographic Details
Published inJournal of genetic medicine Vol. 8; no. 2; pp. 125 - 129
Main Authors 이진(Jin Lee), 정창우(Chang Woo Jung), 김구환(Gu-Hwan Kim), 이범희(Beom Hee Lee), 최진호(Jin-Ho Choi), 유한욱(Han-Wook Yoo)
Format Journal Article
LanguageKorean
Published The Korean Society of Medical Genetics 01.12.2011
대한의학유전학회
Subjects
의학일반
Stickler syndrome
COL2A1
Missense mutation
Online AccessGet full text
ISSN1226-1769
2233-9108
2383-8442

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Summary:Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia, short stature and arthrogryposis. Radiological evaluation also showed irregularity of the epiphysis of the femur and tibia and spondyloepiphyseal dysplasia. Genetic analysis using a peripheral blood sample revealed a novel variant c.787G>A (p.Gly246Asp) mutation of the COL2A1 gene. This is the first Korean case with Stickler syndrome confirmed by genetic testing. 저자들은 고도근시, 망막이상, 납작한콧등, 구개열, 하악후퇴, 소하악증, 저신장, 양쪽 손가락의 관절구축증(arthrogryposis)이 있고, 방사선 검사상 불규칙한 대퇴골과 경골의 골단면, 척추골단이형성증이 보이는 Stickler 증후군 환자 1례에서 COL2A1 유전자의 새로운 돌연변이를 국내 최초로 증명하였기에 문헌고찰과 함께 보고하는 바이다.
Bibliography:KISTI1.1003/JNL.JAKO201106736917217
G704-SER000002217.2011.8.2.007
ISSN:1226-1769
2233-9108
2383-8442