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2个汉族Okihiro综合征家系的SALL4基因新移码变异 被引量:1
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作者 白莹 吴庆华 +4 位作者 李福祯 孙玥 王莉 焦智慧 孔祥东 《中华医学杂志》 CAS CSCD 北大核心 2023年第26期2006-2010,共5页
本研究收集2个汉族Okihiro综合征家系患者的临床表现,应用外显子组测序对2个家系的先证者进行检测,Sanger测序对家系成员进行基因型分析,以确定生物学发病机制,并为家系中的3个高危胎儿提供产前诊断。2个家系的患者表现出广泛的表型,尤... 本研究收集2个汉族Okihiro综合征家系患者的临床表现,应用外显子组测序对2个家系的先证者进行检测,Sanger测序对家系成员进行基因型分析,以确定生物学发病机制,并为家系中的3个高危胎儿提供产前诊断。2个家系的患者表现出广泛的表型,尤其是家系1的先证者在胎儿期就发现超声异常(桡骨畸形、姿势异常、永存动脉干和室间隔缺损等心脏畸形),其余患者表现从严重表型(前臂严重缩短和变形、杜安异常、听力障碍),到不太明显的情况(仅有大鱼际发育不良、桡骨茎突较短小)。外显子组测序在2个家系的先证者中分别发现SALL4基因变异:c.844delC p(.Q282Kfs*8)和c.2210delG p(.G737Vfs*23),其中c.2210delG p(.G737Vfs*23)为新变异。家系验证发现患者成员均携带变异,正常成员中均未检测到。同时,3个高危胎儿中共检出1例正常基因型胎儿,2例携带杂合变异胎儿并终止妊娠。本研究通过外显子组测序和Sanger测序明确了2个Okihiro综合征家系的分子病理学原因,丰富了Okihiro综合征在围产期的临床表现和SALL4基因突变图谱,同时为3个高危胎儿提供产前诊断,有效降低生育患儿的风险。 展开更多
关键词 产前诊断 Okihiro综合征 SALL4基因 上肢畸形 杜安异常
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Congenital Bilateral Proximal Radio-Ulnar Synostosis in a Nigerian Child
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作者 Alabi Ayobami Oyetunji Joel-Medewase Victor Idowu +5 位作者 Olalere Ayankemi Adenike Joel Iretiayo Titilolu Sayomi Bukola Adetutu Oladibu Olanike Taiye Adetoye Mayowa Mary Ashaolu Oluwakayode Joseph 《Open Journal of Pediatrics》 2024年第1期101-107,共7页
Congenital radio-ulnar synostosis (CRUS) is a rare skeletal malformation of the upper limb and the most common congenital functional disorder of the elbow joint, causing limitation in forearm rotational movements, whi... Congenital radio-ulnar synostosis (CRUS) is a rare skeletal malformation of the upper limb and the most common congenital functional disorder of the elbow joint, causing limitation in forearm rotational movements, which may lead to difficulties with some activities of daily living. We reported a 4-year-old girl with congenital bilateral proximal radio-ulnar synostosis who presented with functional discomfort due to limitation of the prono-supination movements of the forearms and abnormal gestures when handling objects. She has clinical and radiological features of congenital radio-ulnar synostosis (CRUS). However, the parents declined corrective surgery because of wrong perception of the condition to be normal. This case highlighted the poor health seeking behavior and wrong illness perception prevalent in the developing countries. 展开更多
关键词 Congenital Radio-Ulnar Synostosis upper limb Congenital anomalies Pro-no-Supination
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