Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
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DOI：
10.1038/s41598-017-12465-6
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发表时间：
2017-09-22
影响因子：
4.6
通讯作者：
Thiel CT
中科院分区：
文献类型：
--
作者：
Hauer NN;Sticht H;Boppudi S;Büttner C;Kraus C;Trautmann U;Zenker M;Zweier C;Wiesener A;Jamra RA;Wieczorek D;Kelkel J;Jung AM;Uebe S;Ekici AB;Rohrer T;Reis A;Dörr HG;Thiel CT
身材矮小是一种常见的儿科疾病，影响3%的人口。然而，临床变异性和遗传异质性阻止了约80%患者的潜在病因的鉴定。最近，编码蛋白聚糖聚集蛋白聚糖（软骨基质的主要成分）的ACAN基因的杂合突变与特发性身材矮小有关。为了确定ACAN突变的患病率和扩大特发性身材矮小患者的表型谱，我们对428个家族进行了序列分析。我们在四个家族中发现了杂合无义突变，在两个家族中发现了潜在的致病错义突变（1.4%）。这些患者的平均SDS为-3.2，并具有一些提示性临床特征。结果提示ACAN杂合突变是孤立性和遗传性特发性矮小的常见原因。
Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the identification of the underlying cause in about 80% of the patients. Recently, heterozygous mutations in the ACAN gene coding for the proteoglycan aggrecan, a main component of the cartilage matrix, were associated with idiopathic short stature. To ascertain the prevalence of ACAN mutations and broaden the phenotypic spectrum in patients with idiopathic short stature we performed sequence analyses in 428 families. We identified heterozygous nonsense mutations in four and potentially disease-causing missense variants in two families (1.4%). These patients presented with a mean of −3.2 SDS and some suggestive clinical characteristics. The results suggest heterozygous mutations in ACAN as a common cause of isolated as well as inherited idiopathic short stature.
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影响因子：
5.6
作者：
Higman, Victoria A.;Blundell, Charles D.;Day, Anthony J.
通讯作者：
Day, Anthony J.
影响因子：
9.8
作者：
Tompson, Stuart W.;Merriman, Barry;Krakow, Deborah
通讯作者：
Krakow, Deborah
影响因子：
9.8
作者：
Li, Quan;Wang, Kai
通讯作者：
Wang, Kai
DOI：
10.1016/j.jpeds.2016.02.068
发表时间：
2016-06
期刊：
The Journal of pediatrics
影响因子：
--
作者：
Jee YH;Baron J
通讯作者：
Baron J
DOI：
10.1002/ajmg.1320370223
发表时间：
1990-10-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
ANDERSON, IJ;TSIPOURAS, P;BEIGHTON, P
通讯作者：
BEIGHTON, P