Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.
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DOI：
10.1016/s0140-6736(15)60496-2
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发表时间：
2015-05-09
期刊：
影响因子：
--
通讯作者：
Black GC
中科院分区：
文献类型：
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作者：
Ellingford JM;Sergouniotis PI;Lennon R;Bhaskar S;Williams SG;Hillman KA;O'Sullivan J;Hall G;Ramsden SC;Lloyd IC;Woolf AS;Black GC
2002年，一名2个月大的男婴接受了普通儿科和儿科眼科服务部门的评估，检查其眼球运动和对视觉线索的异常反应。没有对儿童的总体健康提出担忧，但视觉电生理显示广泛的感光细胞功能障碍，视网膜检查显示中外周精细色素斑驳和视网膜血管衰减（附录）。该儿童被诊断为非综合征性婴儿期视网膜营养不良，这是一种进行性且目前无法治疗的视力损害的常见原因。病人和他的家人得到了定期的随访和教育支持，家人被转介进行遗传咨询。2006年，先证者的妹妹在出生后不久出现了类似的症状，我们诊断出了同样的情况（附录）。视网膜营养不良症的基因检测一直具有挑战性，因为与这些疾病相关的遗传异质性很大。超过20个基因与婴儿发病的视网膜营养不良有关。
In 2002, a 2-month-old male infant was assessed by the general paediatric and paediatric ophthalmic services for roving eye movements and abnormal responses to visual cues. No concerns were raised about the child's general health, but visual electrophysiology showed widespread photoreceptor cell dysfunction and retinal examination showed midperipheral fine pigment mottling and attenuation of retinal blood vessels (appendix). The child was diagnosed with non-syndromic infantile-onset retinal dystrophy, a common cause of visual impairment that is progressive and currently untreatable. The patient and his family have had regular follow-up and educational support and the family was referred for genetic counselling. In 2006, the proband's younger sister presented with similar symptoms shortly after birth and we diagnosed the same condition (appendix).Genetic testing in retinal dystrophies has always been challenging because of the great genetic heterogeneity associated with these conditions. More than 20 genes have been linked with infantile-onset retinal dystrophy.