中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
Chinese Journal of Medical Genetics
2015年
5期
665-669
,共5页
闫有圣%易彬%刘东海%赵芳萍%张钏%陈雪%郝胜菊
閆有聖%易彬%劉東海%趙芳萍%張釧%陳雪%郝勝菊
염유골%역빈%류동해%조방평%장천%진설%학성국
先天性中枢性低通气综合征%PHOX2B基因%高碳酸血症%基因突变
先天性中樞性低通氣綜閤徵%PHOX2B基因%高碳痠血癥%基因突變
선천성중추성저통기종합정%PHOX2B기인%고탄산혈증%기인돌변
Congenital central hypoventilation syndrome%PHOX2B gene%Hypercapnia%Gene mutation
目的 对1例先天性中枢性低通气综合征(congenital central hypoventilation syndrome,CCHS)的临床表型进行观察,并经PHOX2B基因突变分析进行确诊,为家系遗传咨询和产前诊断提供依据.方法 对1例CCHS患者的临床表现及辅助检查结果进行综合分析,并应用扩增片段长度多态性及DNA测序方法对PHOX2B基因进行突变分析.结果 患儿临床表现为反复出现呼吸性酸中毒,CO2潴留,呼吸机辅助通气可纠正,撤机困难,排除了肺部原发性疾病导致通气功能障碍,无心脏原发疾病以及神经系统疾病,符合CCHS的临床诊断.扩增片段长度多态性及DNA测序结果均显示患儿PHOX2B基因第3外显子丙氨酸重复(GCN)20序列区域存在丙氨酸重复序列突变(polyalanine expansion repeat mutation,PARM),克隆测序结果进一步证实患儿丙氨酸重复(GCN)20序列区域出现了27 bp重复,导致PHOX2B的20个丙氨酸重复扩增到29个,基因型为20/29.结论 对于持续存在的睡眠状态下反复出现的高碳酸血症、通气不足、撤机失败,而无心、肺、神经肌肉功能障碍原发病,需考虑CCHS,PHOX2B基因突变检测可诊断CCHS,可为该CCHS家系遗传咨询和产前诊断提供实验室支持.
目的 對1例先天性中樞性低通氣綜閤徵(congenital central hypoventilation syndrome,CCHS)的臨床錶型進行觀察,併經PHOX2B基因突變分析進行確診,為傢繫遺傳咨詢和產前診斷提供依據.方法 對1例CCHS患者的臨床錶現及輔助檢查結果進行綜閤分析,併應用擴增片段長度多態性及DNA測序方法對PHOX2B基因進行突變分析.結果 患兒臨床錶現為反複齣現呼吸性痠中毒,CO2潴留,呼吸機輔助通氣可糾正,撤機睏難,排除瞭肺部原髮性疾病導緻通氣功能障礙,無心髒原髮疾病以及神經繫統疾病,符閤CCHS的臨床診斷.擴增片段長度多態性及DNA測序結果均顯示患兒PHOX2B基因第3外顯子丙氨痠重複(GCN)20序列區域存在丙氨痠重複序列突變(polyalanine expansion repeat mutation,PARM),剋隆測序結果進一步證實患兒丙氨痠重複(GCN)20序列區域齣現瞭27 bp重複,導緻PHOX2B的20箇丙氨痠重複擴增到29箇,基因型為20/29.結論 對于持續存在的睡眠狀態下反複齣現的高碳痠血癥、通氣不足、撤機失敗,而無心、肺、神經肌肉功能障礙原髮病,需攷慮CCHS,PHOX2B基因突變檢測可診斷CCHS,可為該CCHS傢繫遺傳咨詢和產前診斷提供實驗室支持.
목적 대1례선천성중추성저통기종합정(congenital central hypoventilation syndrome,CCHS)적림상표형진행관찰,병경PHOX2B기인돌변분석진행학진,위가계유전자순화산전진단제공의거.방법 대1례CCHS환자적림상표현급보조검사결과진행종합분석,병응용확증편단장도다태성급DNA측서방법대PHOX2B기인진행돌변분석.결과 환인림상표현위반복출현호흡성산중독,CO2저류,호흡궤보조통기가규정,철궤곤난,배제료폐부원발성질병도치통기공능장애,무심장원발질병이급신경계통질병,부합CCHS적림상진단.확증편단장도다태성급DNA측서결과균현시환인PHOX2B기인제3외현자병안산중복(GCN)20서렬구역존재병안산중복서렬돌변(polyalanine expansion repeat mutation,PARM),극륭측서결과진일보증실환인병안산중복(GCN)20서렬구역출현료27 bp중복,도치PHOX2B적20개병안산중복확증도29개,기인형위20/29.결론 대우지속존재적수면상태하반복출현적고탄산혈증、통기불족、철궤실패,이무심、폐、신경기육공능장애원발병,수고필CCHS,PHOX2B기인돌변검측가진단CCHS,가위해CCHS가계유전자순화산전진단제공실험실지지.
Objective To report on the phenotype of an infant with central hypoventilation syndrome (CCHS) and result of PHOX2B gene mutation analysis for the purpose of genetic counseling and prenatal diagnosis.Methods Clinical data of an infant with CCHS was collected and analyzed.Potential mutation of PHOX2B gene was analyzed by amplified fragment length polymorphism(amp-FLP) and DNA sequencing.Results The patient had typical clinical features of CCHS including frequent hypoventilation during sleeping, hypoxemia and hypercapnia which could be corrected by continuous ventilatory support.She also had repeated bruising and was difficult-to-wean, but without any cardiac, pulmonary, neuromuscular or brainstem lesions.DNA sequencing and amp-FLP of the PHOX2B gene showed that the patient has carried a polyalanine expansion repeat mutation(PARM) in exon 3.A 27 bp duplication was confirmed in the repeat sequence of 20 alanines by cloned and sequenced.This has led to an expansion of the repeat tract to 29 alanines.The genotype was therefore 20/29.Conclusion A patient with CCHS has been described.Mutation screening of PHOX2B gene can be used as an important support for diagnosis and genetic counseling for such patients.
