Peters綜合征臨床特征和基因突變的研究

黃麗琴，盧國(guó)華，謝 陽(yáng)，毛平安，孫新成，孟 永

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·臨床研究·

Peters綜合征臨床特征和基因突變的研究

黃麗琴1，盧國(guó)華1，謝 陽(yáng)1，毛平安1，孫新成1，孟 永2

?METHODS: Ten congenital corneal opacities affected patients were enrolled from our pediatric and genetic eye clinic. Medical and ophthalmic histories were obtained. Genomic DNA was prepared from venous leukocytes after informed consent conforming was obtained from each participant. The coding regions and the flanking exon-intron junctions of this gene were amplified by polymerase-chain reaction (PCR) and subsequently analyzed by direct sequencing. Variations detected were further evaluated in 100 normal controls by direct sequencing.

?RESULTS: One affected individual characterized by systemic changes such as congenital heart anomalies and hearing loss showed the consistent phenotypes with Peters syndrome. Sequence analysis of the PITX2 gene revealed one novel mutation, c. 788G>A. Nucleotide sequence analysis showed that this mutation led to the functional abnormal of this gene, however, no mutation was observed in any unaffected member or 100 normal unrelated individuals.

?CONCLUSION: A novel mutation in the PITX2 gene have been identified, this is the first report on a mutation in a Chinese Peters syndrome and the result expand the mutation spectrum of PITX2, further clarify the clinical features of the disease. All these will be useful foundations for clinical diagnosis, medical therapy and pathogenesis.

目的：分析國(guó)人Peters綜合征的臨床特征，并確定致病基因突變，為該病的臨床診斷和治療及發(fā)病原因提供依據(jù)。

方法:選取2012/2015年在常州市第二人民醫(yī)院眼科就診的10例先天性角膜混濁的患者,并收集詳細(xì)的相關(guān)臨床資料。征得患者及其家系成員的同意后抽血制備基因組DNA，用聚合酶鏈反應(yīng)(PCR)對(duì)致病基因PITX2的編碼區(qū)及其臨接內(nèi)含子進(jìn)行擴(kuò)增后，直接測(cè)序分析該基因。同時(shí)檢測(cè)100位無(wú)親緣關(guān)系的正常人外周血標(biāo)本進(jìn)行對(duì)照驗(yàn)證。

結(jié)果：患者1例的臨床特點(diǎn)包括先天性角膜中央部混濁白斑，伴有相應(yīng)區(qū)域的角膜后部基質(zhì)變薄和后彈力層缺損，且患者伴有全身系統(tǒng)如心臟和聽力損害等改變，符合Peters綜合征的臨床診斷；該患者PITX2基因突變篩查結(jié)果發(fā)現(xiàn)了1種新突變，c. 788G>A，導(dǎo)致該基因的功能異常，而家屬中表型正常者及無(wú)親緣關(guān)系的正常對(duì)照者均未發(fā)現(xiàn)該基因突變。

結(jié)論：先天性角膜混濁患者10例中檢測(cè)到1個(gè)新PITX2基因突變，符合Peters綜合征的臨床診斷，這是中國(guó)首次報(bào)道Peters綜合征的PITX2基因突變，結(jié)果豐富了PITX2基因突變頻譜，并進(jìn)一步明確了Peters綜合征的臨床特點(diǎn)，為該病的臨床診斷和治療及發(fā)病原因提供了依據(jù)。

Peters綜合征；先天性角膜混濁；PITX2基因；突變

引用：黃麗琴，盧國(guó)華，謝陽(yáng)，等.Peters綜合征臨床特征和基因突變的研究.國(guó)際眼科雜志2016;16(12):2237-2240

0引言

Peters綜合征(簡(jiǎn)稱PPS)最初在20世紀(jì)由Peter依據(jù)臨床表現(xiàn)及組織學(xué)特點(diǎn)進(jìn)行描述，是最常見的一種先天性角膜混濁眼病。國(guó)外……