SOFT syndrome in a patient from Chile
SOFT syndrome in a patient from Chile
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DOI：
10.1002/ajmg.a.61015
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发表时间：
2019-03-01
影响因子：
2
通讯作者：
Matsumoto, Naomichi
中科院分区：
文献类型：
--
作者：
Saida, Ken;Silva, Sebastian;Matsumoto, Naomichi
SOFT综合征（MIM614813）是一种非常罕见的原始侏儒症，由POC1A基因的双等位基因突变引起。其特征为产前身材矮小、甲发育不良、面部畸形、发育不全和各种骨骼异常，包括骨盆和骶骨发育不全、小手和锥形骨骺，以及骨龄延迟。据我们所知，迄今为止，人类中仅报告了8种POC1A突变。我们报告一个7岁的智利女孩与软综合征所产生的一种新的POC1A突变c。649C>T，p.Arg217Trp.虽然她的临床特征在很大程度上符合SOFT综合征，但在3.5岁和6岁时的手部X线检查意外显示骨龄正常。使用图像分析软件BoneXpert进行自动骨龄测定。该病例强调了POC1A突变患者的积累对于进一步阐明SOFT综合征的详细临床特征的重要性。
SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism caused by biallelic mutations in the POC1A gene. It is characterized by prenatal short stature, onychodysplasia, facial dysmorphism, hypotrichosis, and variable skeletal abnormalities including hypoplastic pelvis and sacrum, small hands, and cone-shaped epiphyses, as well as delayed bone age. To the best of our knowledge, only eight POC1A mutations have been reported in humans to date. We report a 7-year-old Chilean girl with SOFT syndrome arising from a novel POC1A mutation c. 649C>T, p.Arg217Trp. Although her clinical features were largely compatible with SOFT syndrome, hand X-ray examinations at 3.5 and 6 years unexpectedly showed normal bone age. Automated bone age determination was performed using image analysis software, BoneXpert. This case highlights the importance of the accumulation of patients with POC1A mutations to further elucidate the detailed clinical features of SOFT syndrome.