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首页> 美国卫生研究院文献>Journal of the Endocrine Society >SAT-069 Advantages of Next Generation Sequencing (NGS) in Hypophosphatemic Disorders Diagnosis. First Case of SLC9A3R1 Gene Pathogenic Variant Detected in a Pediatric Patient
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SAT-069 Advantages of Next Generation Sequencing (NGS) in Hypophosphatemic Disorders Diagnosis. First Case of SLC9A3R1 Gene Pathogenic Variant Detected in a Pediatric Patient

机译：SAT-069下一代测序（NGS）在次磷酸疾病诊断中的优点。在儿科患者中检测到SLC9A3R1基因致病变异的第一种情况

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Background: Hereditary hypophosphatemic rickets (HHR) is a group of inherited disorders characterized by hypophosphatemia due to renal-phosphate wasting and impairment of vitamin D metabolism, rickets and disproportioned short stature. Different genetic defects are known to cause HHR, but similar clinical and biochemical features were reported. Dominant-X-linked HR (XLHR) is the most frequent form, with an incidence of 1 in 20.000, although dominant and recessive autosomal forms are also described. XLHR is caused by inactivating mutations in the PHEX gene (located at Xp22.1), encoding a endopeptidase which regulates the phosphaturic secretion. Affected individuals present with a broad phenotypic spectrum, ranging from isolated hypophosphatemia up to severe symptoms of rickets. Therefore NGS studies represent an useful tool for molecular diagnosis characterization Aim: to develop a reliable NGS diagnostic tool for HHR and related disorders.
机译：背景：遗传性次磷酸性佝偻病（HHR）是一组遗传症，其特征是由于肾磷酸盐损失和维生素D代谢，佝偻病和不成比例的短地损伤的逆磷血症。已知不同的遗传缺陷导致HHR，但报道了类似的临床和生化特征。优势-X-LINKED HR（XLHR）是最常见的形式，发病率为20.000，但也描述了显性和隐性常染色体形式。 XLHR是由灭活Phex基因（位于XP22.1）中的突变引起的，编码调节磷酸性分泌的内肽酶。受影响的个体存在具有广泛的表型光谱，从孤立的次磷血症的范围内达到严重的佝偻病症状。因此，NGS研究代表了分子诊断表征的有用工具：为HHR和相关疾病开发可靠的NGS诊断工具。

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