Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.
Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.
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DOI：
10.1016/j.jaapos.2009.03.007
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发表时间：
2009-06
期刊：
影响因子：
1.6
通讯作者：
Zenteno, Juan C.
中科院分区：
文献类型：
--
作者：
Murillo-Correa, Claudia E.;Kon-Jara, Veronica;Engle, Elizabeth C.;Zenteno, Juan C.
我们描述了一个分离Duane综合征的墨西哥家族的临床表型，Duane综合征是一种与染色体2 q31（DURS 2）连锁的常染色体显性遗传性状，以前曾报道含有杂合α2-嵌合体错义突变。一个五代墨西哥家庭进行了分析。10例受影响受试者可接受临床检查。对参与受试者进行视力、棱镜盖测试的眼球对准、眼球导管和旋转以及地球仪回缩测试。在儿童中，使用Krimsky测试在注视的主要位置测量对准。纳入10例病例，6例女性，4例男性。双侧Duane综合征5例，单侧Duane综合征5例。单侧病例中右侧是最常见的受累侧。外斜视5例，内斜视4例，下斜视1例。7例患者外展功能严重受限，2例中度受限。轻度内收受限4例，中度内收受限4例。没有观察到其他异常，如第四（trophilar）神经麻痹，眼睑下垂，或密集性弱视，在以前的杜安综合征家族报告。3例垂直功能障碍患者均存在上视受限。记录了一例非昏迷状态。在这个携带α2-嵌合蛋白突变的Duane综合征家系中观察到相当大的家族内临床变异性。在这个和其他DURS 2家族中常见的双侧受累和相关垂直运动的存在，可能表明CHN 1突变的发生是孤立或家族性DURS病例的疾病来源。
We describe the clinical phenotype of a Mexican family segregating Duane syndrome as an autosomal dominant trait linked to chromosome 2q31 (DURS2) and previously reported to harbor a heterozygous α2-chimaerinmissense mutation. A five-generation Mexican family was analyzed. Ten affected subjects were available for clinical examination. Participating subjects were tested for visual acuity, ocular alignment by prism cover testing, ocular ductions and versions, and globe retraction. In children, alignment was measured with the Krimsky test in cardinal positions of gaze. Ten cases were included, 6 females and 4 males. Five cases presented with bilateral and 5 with unilateral Duane syndrome. Right side was the most commonly affected side on unilateral cases. Five cases exhibited exotropia, 4 esotropia, and 1 hypotropia. Seven patients had important limitation of abduction; two, moderate limitation. Four patients had mild adduction limitation and 4 had moderate limitation. No additional anomalies such as fourth (trochlear) nerve palsy, blepharoptosis, or dense amblyopia, reported in previous Duane syndrome families, were observed. All 3 cases that exhibited vertical dysfunction had upgaze limitation. One instance of nonpenetrance was recorded. Considerable intrafamilial clinical variability was observed in this Duane syndrome pedigree carrying a α2-chimaerin mutation. The presence of bilateral involvement and associated vertical movements, commonly observed in this and others DURS2 families, could suggest the occurrence of CHN1 mutations as the source of the disease in isolated or familial DURS cases.
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影响因子：
5.3
作者：
Evans, JC;Frayling, TM;Gutowski, NH
通讯作者：
Gutowski, NH
影响因子：
4.1
作者：
KIRKHAM, TH
通讯作者：
KIRKHAM, TH
影响因子：
9.8
作者：
Al-Baradie, R;Yamada, K;Engle, EC
通讯作者：
Engle, EC
DOI：
10.1126/science.1156121
发表时间：
2008-08-08
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Miyake N;Chilton J;Psatha M;Cheng L;Andrews C;Chan WM;Law K;Crosier M;Lindsay S;Cheung M;Allen J;Gutowski NJ;Ellard S;Young E;Iannaccone A;Appukuttan B;Stout JT;Christiansen S;Ciccarelli ML;Baldi A;Campioni M;Zenteno JC;Davenport D;Mariani LE;Sahin M;Guthrie S;Engle EC
通讯作者：
Engle EC
影响因子：
9.8
作者：
Appukuttan, B;Gillanders, E;Stout, JT
通讯作者：
Stout, JT