本文選題：青少年型神經(jīng)元臘樣脂褐質(zhì)沉積癥　切入點(diǎn)：CLN基因　出處：《國(guó)際神經(jīng)病學(xué)神經(jīng)外科學(xué)雜志》2017年02期

【摘要】：目的報(bào)道及分析CLN5基因復(fù)合雜合突變致青少年型神經(jīng)元臘樣脂褐質(zhì)沉積癥(JNCL)患者的臨床特征和基因突變類型。方法觀察分析1例JNCL病人的臨床表現(xiàn)、影像學(xué)、腦電圖改變,進(jìn)行全外顯子組基因測(cè)序,并對(duì)其家庭成員進(jìn)行相關(guān)基因檢測(cè)和臨床檢查。結(jié)果患者于6歲開(kāi)始視力減退及智力倒退,9歲出現(xiàn)肌陣攣發(fā)作、行走不穩(wěn)。頭顱MRI顯示小腦明顯萎縮,大腦皮質(zhì)和腦干輕度萎縮。視頻腦電圖顯示彌漫性2.5~3.5 Hz慢活動(dòng)及顳區(qū)尖波。全外顯子測(cè)序發(fā)現(xiàn)患者CLN5等位基因上1個(gè)來(lái)源于父親的錯(cuò)義突變:exon2 c.376TC,以及1個(gè)來(lái)源于母親的無(wú)義突變:exon3 c.595 CT。患兒父親及弟弟均有c.376 TC突變,兩人體查均發(fā)現(xiàn)水平性及旋轉(zhuǎn)性眼震,該位點(diǎn)突變目前尚未見(jiàn)報(bào)道。結(jié)論 CLN5基因c.376TC和c.595CT的復(fù)合雜合突變可以引起JNCL臨床癥狀、影像學(xué)和腦電圖改變。對(duì)于NCL可疑病例應(yīng)該對(duì)患者及家族成員及早進(jìn)行相關(guān)基因測(cè)序明確其基因型,并實(shí)施生育指導(dǎo)。
[Abstract]:Objective to report and analyze the clinical features and gene mutation types of juvenile neuronal cerulolipofuscin syndrome (JNCLs) caused by CLN5 gene heterozygosity mutation. Methods the clinical manifestation, imaging and electroencephalogram (EEG) of one patient with JNCL were observed and analyzed. All exon group genes were sequenced, and their family members were tested and clinically examined. Results the patients began to have myoclonic seizures at the age of 6 and their mental retardation at the age of 9. Unsteady walking. Cranial MRI showed apparent cerebellar atrophy, Mild atrophy of cerebral cortex and brainstem. Video EEG showed diffuse 2.5 ~ 3.5Hz slow activity and temporal apical wave. The total exon sequencing revealed that one of the CLN5 alleles was derived from the father's missense mutation: exon2 c. 376TC, and one was derived from a missense mutation in the temporal region. The father and younger brother of the child both had c 376 TC mutation, and the mother had a missense mutation of 10% exon 3 c. 595 CT.The child's father and brother both had c 376 TC mutation. Horizontal and rotational nystagmus were found in both human bodies. The mutation of this locus has not been reported. Conclusion the compound heterozygosity mutation of CLN5 gene c.376TC and c.595CT can cause clinical symptoms of JNCL. Imaging and EEG changes. Patients and family members should be sequenced as early as possible to identify their genotypes and fertility guidance in suspicious cases of NCL.
【作者單位】： 廣州醫(yī)科大學(xué)附屬第二醫(yī)院神經(jīng)內(nèi)科;
【分類號(hào)】：R741

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本文編號(hào)：1675247