Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
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DOI：
10.1086/343821
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发表时间：
2002-11-01
影响因子：
9.8
通讯作者：
Engle, EC
中科院分区：
文献类型：
--
作者：
Al-Baradie, R;Yamada, K;Engle, EC
Duane综合征是一种先天性眼球运动障碍，其最典型的特征是外展缺失、内收受限和尝试内收时地球仪回缩。Duane综合征可以与放射状射线异常共同遗传，作为常染色体显性性状，称为“Okihiro综合征”或“Duane放射状射线综合征”（DRRS）。我们确定了三个DRRS家系，并将其疾病基因定位到20号染色体的21.6 cM区域，两侧是标记D20S888和D20S102。SAL家族的一个新成员，SALL 4，建议C2 H2锌指转录因子，福尔斯落在该地区。3个家系的SALL 4基因突变分析显示1个无义突变和2个移码杂合突变。SALL4代表了第一个被鉴定的Duane综合征基因和第二个由SAL基因突变引起的畸形综合征，并且可能在外展神经运动神经元发育中起关键作用。
Duane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction of the globe on attempted adduction. Duane syndrome can be coinherited with radial ray anomalies as an autosomal dominant trait, referred to as "Okihiro syndrome" or "Duane radial ray syndrome" (DRRS). We ascertained three pedigrees with DRRS and mapped their disease gene to a 21.6-cM region of chromosome 20 flanked by markers D20S888 and D20S102. A new member of the SAL family of proposed C2H2 zinc finger transcription factors, SALL4, falls within the region. Mutation analysis of SALL4 in the three pedigrees revealed one nonsense and two frameshift heterozygous mutations. SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development.