CAJ | 학술논문

目的对1例LEOPARD综合征(LS)家系进行PTPN11基因突变检测,以明确其致病基因.方法收集该LS家系的临床资料,提取外周血DNA、通过PCR扩增PTPN11基因编码区的全部外显子及其侧翼序列并测序,以表型正常家系成员及50例健康人为健康对照.结果发现该家系内患者存在PTPN11基因的错义突变c.836A＞G,在家系中正常人及对照者未发现上述突变.结论错义突变PTPN11的c.836A＞G为导致该家系临床表型的原因.
목적 대1례LEOPARD종합정(LS)가계진행PTPN11기인돌변검측,이명학기치병기인.방법 수집해LS가계적림상자료,제취외주혈DNA、통과PCR확증PTPN11기인편마구적전부외현자급기측익서렬병측서,이표형정상가계성원급50례건강인위건강대조.결과 발현해가계내환자존재PTPN11기인적착의돌변c.836A＞G,재가계중정상인급대조자미발현상술돌변.결론 착의돌변PTPN11적c.836A＞G위도치해가계림상표형적원인.
Objective To detect mutations in the PTPN11 gene in a family with LEOPARD syndrome (LS).Methods Clinical data were collected from a 7-year-old boy patient with LS.Peripheral blood was obtained from the patient,both of his parents,and 50 healthy controls.All the exons and their flanking sequences of the PTPN11 gene were amplified by PCR followed by direct DNA sequencing.Results A heterozygous missense mutation c.836A ＞ G,which resulted in a substitution of TAT by TGT at codon 279,was found in exon 7 of the PTPN11 gene in the patient.No mutation was detected in the unaffected parents or healthy controls.Conclusion The missense mutation c.836A ＞ G may be the cause of the phenotype of LS in this family.