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首页> 外文期刊>American journal of medical genetics, Part A >Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin
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Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin

机译：划定高中磷酸性缺血综合征4在14例中东起源患者中的表型谱

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摘要

Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive condition caused by an impairment of glycosylphophatidylinositol biosynthesis. The cardinal features of HPMRS4 include; characteristic facial features, severe intellectual disability and various neurologic abnormalities. We report here detailed clinical, biochemical, and molecular findings of 14 patients clinically suspected to have HPMRS4, from three Middle-Eastern Countries; Saudi Arabia, Qatar, and Oman. All patients in our series presented with the cardinal features pointing to HPMRS4 and with an elevated alkaline phosphatase level. Five patients had megalocornea, which have been reported recently in an Arab patient. Additionally, fracture, bilateral coxa valga, camptodactyly, truncal obesity, and hyperpigmented macules of the upper thigh, each was seen once and was not described before with HPMRS4. Additional clinical and radiological findings are described, supporting the novel clinical and radiological findings recently described in Egyptian patients. The utilization of homozygosity mapping coupled with PGAP3 sequencing and whole exome sequencing facilitated the mutation detection in these patients. These missense mutations include c.320C T (p.S107 L), c.850C T (p.H284Y), and c.851A G (p.H284R) in the PGAP3 gene. We believe that the recurrent mutations identified in our cohort may represent founder mutations in big tribes from a certain geographical region of Saudi Arabia, Qatar, and Oman. Therefore, in case of a clinical suspicion of HPMRS4 in these populations, targeted genetic testing for the identified mutations should be performed first to expedite the genetic diagnosis.
机译：具有精神发育迟滞综合征4（HPMRS4）的高磷磷属性是由糖基苯酚吡啶肌醇生物合成损伤引起的稀有常血型隐性条件。 HPMRS4的基本特征包括;特征面部特征，严重的智力残疾和各种神经系统异常。我们在这里报告了14名患者的详细的临床，生化和分子结果，临床上涉嫌拥有HPMRS4，来自三个中东国家;沙特阿拉伯，卡塔尔和阿曼。我们系列中的所有患者均具有指向HPMRS4的基本特征，含有升高的碱性磷酸酶水平。五名患者患有巨大的巨大，最近在阿拉伯患者中报道。此外，骨折，双侧Coxa valga，蜂窝状，Truncal肥胖和上大腿的特性肥胖，每次看一次，并未在HPMRS4之前描述。描述了额外的临床和放射学发现，支持最近在埃及患者中描述的新型临床和放射发现。利用纯合性映射与PGAP3测序和全外壳测序耦合的促进了这些患者的突变检测。这些畸形突变包括C.320c＆ T（p.S107L），C.850C＆GT; t（p.h284y）和c.851a＆ g（p.h284r）在pgap3基因中。我们认为，我们的队列中确定的复发突变可能代表来自沙特阿拉伯，卡塔尔和阿曼的某个地理区域的大部落中的创始人突变。因此，在这些群体中对HPMRS4的临床怀疑的情况下，应首先进行鉴定突变的靶向遗传检测以加快遗传诊断。

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