Whole exome sequencing to identify genetic causes of short stature.
Whole exome sequencing to identify genetic causes of short stature.
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DOI：
10.1159/000360857
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发表时间：
2014
影响因子：
3.2
通讯作者：
Dauber A
中科院分区：
文献类型：
--
作者：
Guo MH;Shen Y;Walvoord EC;Miller TC;Moon JE;Hirschhorn JN;Dauber A
身材矮小是到儿科内分泌诊所就诊的常见原因。然而，对于大多数患者来说，无法确定身材矮小的原因。由于遗传学在身高方面发挥着重要作用，我们试图找出导致身材矮小的已知和新的遗传原因。我们招募了 14 名病因不明的严重身材矮小儿童。我们对患者及其家人进行了全外显子组测序。我们使用分析流程来识别导致身材矮小的罕见非同义遗传变异。我们在 14 名患者中确定了 5 名身材矮小的遗传原因。其中包括浮港综合征、肯尼-卡菲综合征、早衰型埃勒斯-当洛斯综合征以及两例 3-M 综合征。对于剩余的患者，我们已经生成了候选变体列表。全外显子组测序可以帮助识别特定遗传综合征背景下身材矮小的遗传原因，但在识别个体家庭中身材矮小的新遗传原因方面可能效果较差。在临床中使用，全外显子组测序可以为这些患者提供临床相关的诊断。儿科内分泌诊所可能没有充分认识和诊断身材矮小的罕见综合征原因。
Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified. As genetics plays a strong role in height, we sought to identify known and novel genetic causes of short stature. We recruited 14 children with severe short stature of unknown etiology. We conducted whole exome sequencing of the patients and their family members. We used an analysis pipeline to identify rare nonsynonymous genetic variants that cause the short stature. We identified a genetic cause of short stature in 5 of the 14 patients. This included cases of Floating Harbor syndrome, Kenny-Caffey syndrome, the progeroid form of Ehlers-Danlos syndrome, as well as two cases of the 3-M syndrome. For remaining patients, we have generated lists of candidate variants. Whole exome sequencing can help identify genetic causes of short stature in the context of defined genetic syndromes, but may be less effective in identifying novel genetic causes of short stature in individual families. Utilized in the clinic, whole exome sequencing can provide clinically relevant diagnoses for these patients. Rare syndromic causes of short stature may be under-recognized and under-diagnosed in pediatric endocrinology clinics.
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影响因子：
2
作者：
Akawi, Nadia A.;Ali, Bassam R.;Al-Gazali, Lihadh
通讯作者：
Al-Gazali, Lihadh
影响因子：
4.5
作者：
Zahnleiter D;Uebe S;Ekici AB;Hoyer J;Wiesener A;Wieczorek D;Kunstmann E;Reis A;Doerr HG;Rauch A;Thiel CT
通讯作者：
Thiel CT
影响因子：
1.2
作者：
Cingolani, Pablo;Platts, Adrian;Ruden, Douglas M.
通讯作者：
Ruden, Douglas M.
影响因子：
3.5
作者：
Carmichael H;Shen Y;Nguyen TT;Hirschhorn JN;Dauber A
通讯作者：
Dauber A
影响因子：
5.8
作者：
Olney, RC;Bükülmez, H;Warman, ML
通讯作者：
Warman, ML