Clinical Pediatric Endocrinology最新文献

英文中文

Neonatal mass screening for 21-hydroxylase deficiency 新生儿21-羟化酶缺乏症的大规模筛查

IF 1.4 Q4 ENDOCRINOLOGY & METABOLISM

Clinical Pediatric Endocrinology

Pub Date : 2016-01-01 DOI: 10.1297/cpe.25.1

T. Tajima, M. Fukushi

Abstract. Congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide. This disease shows phenotypic differences, and it is divided into three forms i.e., the salt wasting (SW), simple virilizing (SV), and nonclassic (NC) forms. The most severe form of SW manifests in the first months of life with life-threatening adrenal insufficiency, leading to death. To prevent death by adrenal insufficiency in neonates with the SW form and wrong gender assignment of 46,XX female patients with SW and SV, neonatal mass screening of 21-OHD is performed in several countries including Japan. However, the positive predictive value (PPV) remains low, especially in preterm infants. To reduce the false positive rate and increase the PPV, liquid chromatography followed by tandem mass spectrometry (LC-MS/MS) as a second-tier test may be useful. In this review, the current knowledge on neonatal mass screening of 21-OHD is summarized.

摘要21-羟化酶缺乏症(21-OHD)引起的先天性肾上腺增生症(CAH)是一种遗传性常染色体隐性遗传病。在世界范围内，其发病率为万分之一至二万分之一。该病表现出表型差异，可分为盐耗型(SW)、简单男性化型(SV)和非经典型(NC)三种形式。SW最严重的形式表现在生命的最初几个月，伴有危及生命的肾上腺功能不全，导致死亡。为了预防46,XX例女性SW和SV患者合并SW形态和错误性别分配的新生儿肾上腺功能不全死亡，在包括日本在内的几个国家对21-OHD进行了新生儿大规模筛查。然而，阳性预测值(PPV)仍然很低，尤其是早产儿。为了降低假阳性率和提高PPV，液相色谱-串联质谱(LC-MS/MS)作为二级检测可能有用。本文综述了目前关于21-OHD新生儿群体筛查的知识。

引用次数: 16

A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone 日本甲状腺激素抗性家族THRB基因的新突变

IF 1.4 Q4 ENDOCRINOLOGY & METABOLISM

Clinical Pediatric Endocrinology

Pub Date : 2016-01-01 DOI: 10.1297/cpe.25.19

J. Ito, S. Narumi, K. Nishizawa, T. Kamimaki, N. Hori, T. Hasegawa

Resistance to thyroid hormone (RTH; OMIM 190160) is an inherited syndrome of reduced sensitivity to thyroid hormone. RTH, in majority, is caused by monoallelic inactivating mutation of THRB, which encodes the thyroid hormone receptor β (TRβ) (1). RTH is endocrinologically characterized by high serum thyroid hormones together with inappropriately normal TSH. The severity of hormonal resistance varies among different tissues in an affected individual, due to differences in the relative expression of TRβ and thyroid hormone receptor alpha (TRα) in different tissues (2). To date, more than 100 THRB mutations have been reported among RTH patients. Most mutations are located in the ligand-binding domain of TR. They interfere with the function of the normal TR because of their dominant negative effect (1). We report a novel mutation of the THRB gene in a family with RTH.

甲状腺激素抵抗;OMIM(190160)是一种对甲状腺激素敏感性降低的遗传性综合征。RTH主要是由编码甲状腺激素受体β (TRβ)的THRB的单等位基因失活突变引起的(1)。RTH的内分泌特征是血清甲状腺激素升高，同时TSH异常正常。由于不同组织中TRβ和甲状腺激素受体α (TRα)的相对表达差异，受影响个体的激素抵抗程度在不同组织中有所不同(2)。迄今为止，在RTH患者中已报道了100多个THRB突变。大多数突变位于TR的配体结合区域，由于其主要的负作用，它们干扰正常TR的功能(1)。我们报道了一个RTH家族中THRB基因的新突变。

引用次数: 3

The factors affecting on estimation of carbohydrate content of meals in carbohydrate counting. 在碳水化合物计数中，影响膳食碳水化合物含量估算的因素。

IF 1.4 Q4 ENDOCRINOLOGY & METABOLISM

Clinical Pediatric Endocrinology

Pub Date : 2015-10-01 Epub Date: 2015-10-24 DOI: 10.1297/cpe.24.153

Tomoyuki Kawamura, Chihiro Takamura, Masakazu Hirose, Tomomi Hashimoto, Takashi Higashide, Yoneo Kashihara, Kayako Hashimura, Haruo Shintaku

The objective of this study was to identify factors affecting on errors in carbohydrate (CHO) content estimation during CHO counting. Thirty-seven type 1 diabetes patients and 22 of their parents and 28 physicians/dieticians were enrolled in this study. CHO counting was counted in "Carb", with 1 Carb defined as 10 g of CHO. To evaluate the accuracy of CHO counting, 80 real-size photographs of cooked meals were presented to the subjects for Carb estimation. Carbs tended to be overestimated for foods containing relatively small amounts of Carbs. On the other hands, Carbs tended to be underestimated for foods with higher than 6 Carbs. Accurate estimation of the Carbs in food containing a large amount of rice was particularly difficult even in the subjects having the CHO counting experience. The Carb contents of high-calorie foods such as meats, fried foods, and desserts tended to be overestimated. This error was smaller in subjects having the CHO counting experience. In conclusion, misunderstanding of high-calorie dishes containing high amounts of CHO was observed in inexperienced subjects, indicating the efficacy of the current methodology of CHO counting. On the other hand it was difficult even for experienced subjects to assess the amount of seasoned rice, suggesting the need for a new methodology for accurate estimation.

本研究的目的是找出影响碳水化合物（CHO）含量计算错误的因素。37 名 1 型糖尿病患者及其 22 名家长和 28 名医生/营养师参加了这项研究。碳水化合物的计算以 "Carb "为单位，1 Carb 定义为 10 克碳水化合物。为了评估碳水化合物计算的准确性，研究人员向受试者展示了 80 张真实大小的熟食照片，供其估算碳水化合物含量。对于碳水化合物含量相对较少的食物，碳水化合物往往被高估。另一方面，对于碳水化合物含量高于 6 的食物，碳水化合物往往被低估。即使是具有碳水化合物计数经验的受试者，也很难准确估计含有大量米饭的食物中的碳水化合物含量。肉类、油炸食品和甜点等高热量食物的碳水化合物含量往往被高估。这种误差在有热量计算经验的受试者中较小。总之，没有经验的受试者对含有大量碳水化合物的高热量菜肴存在误解，这表明目前的碳水化合物计算方法是有效的。另一方面，即使是有经验的受试者也很难评估调味米饭的量，这表明需要一种新的方法来准确估算。

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引用次数: 0

Age at menarche and near final height after treatment with gonadotropin-releasing hormone agonist alone or combined with growth hormone in Korean girls with central precocious puberty 韩国中枢性性性早熟女孩单独或联合使用促性腺激素释放激素激动剂治疗后初潮年龄和接近最终身高

IF 1.4 Q4 ENDOCRINOLOGY & METABOLISM

Clinical Pediatric Endocrinology

Pub Date : 2015-10-01 DOI: 10.1297/cpe.24.175

YunHee Gyon, Yeong Ju Yun, Yong-Dae Kim, H. Han

Abstract. The use of a GnRH agonist (GnRHa) in central precocious puberty (CPP) is known to slow puberty progression, subsequently prevent early menarche, and attenuate the height loss caused by advanced skeletal maturation. But enhancing the final height has been so controversial that an additional approach has been used. We investigated the menarcheal age and near final height (NFH) in girls with CPP treated with GnRHa (N = 61) or GnRHa combined GH (N = 24). GnRHa was started at 8.1 ± 0.7 yr and administered for 2.1 ± 1.0 years. GH was used for 2.1 ± 1.1 yr in subjects with a short predicted adult height (PAH). Menarche occurred at 11.6 ± 0.8 yr of age, which was 15.7 ± 6.4 mo after GnRHa discontinuation. PAH increased significantly from 152.0 ± 7.2 cm to 158.8 ± 5.6 cm during treatment, and the NFH (159.7 ± 4.8 cm) was taller than the midparental height (157.8 ± 3.4 cm). The combined treatment group showed a greater height increment during treatment. Younger age, taller height at the start of treatment, taller parental height and longer duration of treatment were the factors influencing NFH. In conclusion, GnRHa treatment in girls with CPP could improve NFH and delay menarche close to the general population. If GnRHa combined with GH is used in girls with CPP and a short midparental height, it would improve the NFH to a value similar to that in the general population.

摘要在中枢性性早熟(CPP)中使用GnRH激动剂(GnRHa)可以减缓青春期的进展，随后防止月经初潮，并减轻由骨骼成熟晚期引起的身高下降。但提高最终高度的争议很大，因此采用了另一种方法。我们研究了GnRHa治疗的CPP女孩(N = 61)或GnRHa联合GH (N = 24)的月经初峰年龄和接近最终高度(NFH)。GnRHa起始时间为8.1±0.7年，用药时间为2.1±1.0年。生长激素用于预测成人身高(PAH)较短的受试者2.1±1.1年。月经初潮发生在11.6±0.8岁，停药后为15.7±6.4个月。治疗期间PAH由152.0±7.2 cm显著增加至158.8±5.6 cm, NFH(159.7±4.8 cm)高于双亲身高(157.8±3.4 cm)。联合治疗组在治疗过程中身高增加幅度更大。年龄小、治疗开始时身高高、父母身高高、治疗持续时间长是影响NFH的因素。综上所述，GnRHa治疗CPP女孩可以改善NFH，并将月经初潮推迟到接近一般人群。若GnRHa联合GH用于双亲身高较矮的CPP女童，可使NFH提高到与一般人群相近的水平。

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引用次数: 10

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan 日本特纳综合征患者自发性乳房发育和自发性月经初潮的频率

IF 1.4 Q4 ENDOCRINOLOGY & METABOLISM

Clinical Pediatric Endocrinology

Pub Date : 2015-10-01 DOI: 10.1297/cpe.24.167

Toshiaki Tanaka, Y. Igarashi, K. Ozono, K. Ohyama, M. Ogawa, H. Osada, K. Onigata, S. Kanzaki, H. Kohno, Y. Seino, Hiroaki Takahashi, T. Tajima, K. Tachibana, Hiroyuki Tanaka, Y. Nishi, T. Hasegawa, K. Fujita, T. Yorifuji, R. Horikawa, S. Yokoya

Abstract. The Growject® database on human GH treatment in Turner syndrome was analyzed in the Turner Syndrome Research Collaboration, and the relationships of the frequencies of spontaneous breast development and spontaneous menarche with karyotype and GH treatment were investigated. One hundred and three cases started GH treatment with 0.5 IU/kg/ week (0.5 IU group), and their dose was increased to 0.35 mg/kg/wk midway through the treatment course. Another 109 cases started GH at a dose of 0.35 mg/kg/wk (0.35 mg group). Spontaneous breast development was observed in 77 (36.3%) of the 212 patients, and spontaneous menarche occurred in 31 patients (14.6%). The frequency of spontaneous breast development was significantly lower in patients with the 45,X karyotype and significantly higher in patients with a structural abnormality of the second X chromosome. The frequency of spontaneous menarche was significantly higher in patients with mosaicism characterized by X monosomy and a cellular line with no structural abnormality of the X chromosome. No significant differences in frequencies of spontaneous breast development and spontaneous menarche were observed between the two dose groups, indicating that GH treatment does not increase the frequency of spontaneous puberty.

摘要在Turner综合征研究合作组织中分析Growject®人类生长激素治疗Turner综合征的数据库，并研究乳房自发发育和月经初潮的频率与核型和生长激素治疗的关系。103例患者以0.5 IU/kg/周开始GH治疗(0.5 IU组)，治疗中途剂量增加至0.35 mg/kg/周。另外109例以0.35 mg/kg/周(0.35 mg组)的剂量开始生长激素治疗。212例患者中乳房自发发育77例(36.3%)，自发性月经初潮31例(14.6%)。在45x染色体核型的患者中，自发乳房发育的频率明显较低，而在第二条X染色体结构异常的患者中，自发乳房发育的频率明显较高。以X染色体单体为特征的嵌合体和细胞系无X染色体结构异常的患者自发性月经初潮的频率明显较高。自发乳房发育和自发月经初潮的频率在两个剂量组之间没有显著差异，表明生长激素治疗并没有增加自发青春期的频率。

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引用次数: 40

Bone age: assessment methods and clinical applications 骨龄:评估方法及临床应用

IF 1.4 Q4 ENDOCRINOLOGY & METABOLISM

Clinical Pediatric Endocrinology

Pub Date : 2015-10-01 DOI: 10.1297/cpe.24.143

M. Satoh

Abstract. The main bone age assessment methods are the Greulich-Pyle and Tanner-Whitehouse 2 methods, both of which involve left hand and wrist radiographs. Several other bone age assessment methods have been developed, including ultrasonographic, computerized, and magnetic resonance (MR) imaging methods. The ultrasonographic method appears unreliable in children with delayed and advanced bone age. MR imaging is noninvasive; however, bone age assessment using MR imaging is relatively new, and further examinations are needed. An automated method for determining bone age, named BoneXpert, has been validated for Caucasian children with growth disorders and children of various ethnic groups. Sex hormones are necessary for bone growth and maturation in children with a bone age corresponding to normal pubertal age, and estrogen is essential for growth plate closure. Bone age is an effective indicator for diagnosing and treating various diseases. A new method for adult height prediction based on bone age has been developed using BoneXpert, in addition to the commonly used Bayley-Pinneau and Tanner-Whitehouse mark II methods. Furthermore, bone age may become a predictor for the timing of peak height velocity and menarche.

摘要主要的骨龄评估方法是Greulich-Pyle和Tanner-Whitehouse 2方法，这两种方法都涉及左手和手腕x线片。其他几种骨龄评估方法已经开发出来，包括超声、计算机化和磁共振(MR)成像方法。超声检查方法在骨龄延迟和骨龄提前的儿童中显得不可靠。磁共振成像是非侵入性的;然而，使用磁共振成像评估骨龄是相对较新的技术，需要进一步的检查。一种名为BoneXpert的测定骨龄的自动化方法已经在患有生长障碍的高加索儿童和不同种族的儿童身上得到了验证。性激素对于骨龄与正常青春期年龄相对应的儿童的骨骼生长和成熟是必需的，雌激素对于生长板闭合是必需的。骨龄是诊断和治疗各种疾病的有效指标。除了常用的Bayley-Pinneau和Tanner-Whitehouse mark II方法外，BoneXpert还开发了一种基于骨龄的成人身高预测新方法。此外，骨龄可能成为高峰高度速度和月经初潮时间的预测因子。

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引用次数: 122

An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene 青春期家族性甲状旁腺功能亢进伴CDC73基因种系移码突变1例

IF 1.4 Q4 ENDOCRINOLOGY & METABOLISM

Clinical Pediatric Endocrinology

Pub Date : 2015-10-01 DOI: 10.1297/cpe.24.185

Takako Takeuchi, Y. Yoto, T. Tsugawa, H. Kamasaki, A. Kondo, J. Ogino, T. Hasegawa, N. Yama, Sawa Anan, S. Uchino, A. Ishikawa, A. Sakurai, H. Tsutsumi

Abstract. A 13-yr-old boy who complained of persistent nausea, vomiting and weight loss had hypercalcemia and an elevated intact PTH level. Computed tomography confirmed two tumors in the thyroid gland. The tumors were surgically removed and pathologically confirmed as parathyroid adenoma. Because his maternal aunt and grandmother both had histories of parathyroid tumors, genetic investigation was undertaken for him, and a germline frameshift mutation of the CDC73 gene was identified. CDC73 gene analysis should be done on individuals who are at risk of familial hyperparathyroidism, including those who are asymptomatic, and they should be followed for potential primary hyperparathyroidism and associated disorders including resultant parathyroid carcinoma.

摘要一个13岁的男孩抱怨持续恶心，呕吐和体重减轻，高钙血症和完整甲状旁腺激素水平升高。计算机断层扫描证实甲状腺有两个肿瘤。经手术切除，病理证实为甲状旁腺瘤。由于他的姑姑和祖母都有甲状旁腺肿瘤病史，因此对他进行了遗传调查，并鉴定出CDC73基因的种系移码突变。对于有家族性甲状旁腺功能亢进风险的个体，包括无症状的个体，应进行CDC73基因分析，并应随访潜在的原发性甲状旁腺功能亢进和相关疾病，包括由此产生的甲状旁腺癌。

引用次数: 4

A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide 1例日本新生儿糖尿病患者，由ABCC8基因突变引起，口服格列本脲成功控制

IF 1.4 Q4 ENDOCRINOLOGY & METABOLISM

Clinical Pediatric Endocrinology

Pub Date : 2015-10-01 DOI: 10.1297/cpe.24.191

Ryojun Takeda, M. Takagi, K. Miyai, Hiroyuki Shinohara, H. Yagi, M. Moritani, I. Yokota, Y. Hasegawa

Permanent neonatal diabetes mellitus (PNDM) is a rare form of insulin-dependent diabetes mellitus that presents within the first 6 months after birth and may require lifelong insulin treatment. Approximately 40% of all PNDM cases are caused by activating mutations in either the KCNJ11 gene or ABCC8 gene, which encode the Kir6.2 or sulfonylurea receptor (SUR) 1 subunit of the ATP-sensitive potassium channel (KATP channel), respectively (1,2,3). The KATP channel is expressed on the surface of pancreatic beta cells. In this context, a heterozygous gain-of-function mutation in ABCC8 or KCNJ11 causes PNDM. High-dose oral sulfonylurea has been reported to be an effective treatment agent for PNDM with ABCC8 and KCNJ11 gene mutations compared with insulin injection (4). Here we report a patient with PNDM caused by a novel heterozygous missense mutation in ABCC8 and controlled with oral glibenclamide for more than 3 yr.

永久性新生儿糖尿病(PNDM)是一种罕见的胰岛素依赖型糖尿病，出现在出生后的前6个月内，可能需要终生胰岛素治疗。大约40%的PNDM病例是由KCNJ11基因或ABCC8基因激活突变引起的，这两个基因分别编码atp敏感钾通道(KATP通道)的Kir6.2或磺酰脲受体(SUR) 1亚基(1,2,3)。KATP通道在胰腺细胞表面表达。在这种情况下，ABCC8或KCNJ11的杂合功能获得突变导致PNDM。据报道，与胰岛素注射相比，大剂量口服磺脲是一种有效的治疗ABCC8和KCNJ11基因突变的PNDM的药物(4)。在这里，我们报告了一名由ABCC8新杂合错义突变引起的PNDM患者，口服格列苯脲控制了3年多。

引用次数: 6

Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision) 先天性甲状腺功能减退症大规模筛查指南(2014年修订版)

IF 1.4 Q4 ENDOCRINOLOGY & METABOLISM

Clinical Pediatric Endocrinology

Pub Date : 2015-07-01 DOI: 10.1297/cpe.24.107

K. Nagasaki, K. Minamitani, M. Anzo, M. Adachi, T. Ishii, K. Onigata, S. Kusuda, S. Harada, R. Horikawa, M. Minagawa, H. Mizuno, Y. Yamakami, M. Fukushi, T. Tajima

Purpose of developing the guidelines: Mass screening for congenital hypothyroidism started in 1979 in Japan, and the prognosis for intelligence has been improved by early diagnosis and treatment. The incidence was about 1/4000 of the birth population, but it has increased due to diagnosis of subclinical congenital hypothyroidism. The disease requires continuous treatment, and specialized medical facilities should make a differential diagnosis and treat subjects who are positive in mass screening to avoid unnecessary treatment. The Guidelines for Mass Screening of Congenital Hypothyroidism (1998 version) were developed by the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology in 1998. Subsequently, new findings on prognosis and problems in the adult phase have emerged. Based on these new findings, the 1998 guidelines were revised in the current document (hereinafter referred to as the Guidelines). Target disease/conditions: Primary congenital hypothyroidism. Users of the Guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, physicians referring patients to pediatric practitioners, general physicians, laboratory technicians in charge of mass screening, and patients.

制定指南的目的:日本于1979年开始对先天性甲状腺功能减退症进行大规模筛查，早期诊断和治疗改善了智力预后。发病率约为出生人口的1/4000，但由于诊断为亚临床先天性甲状腺功能减退，发病率有所增加。该病需要持续治疗，专业医疗机构应进行鉴别诊断，并对大规模筛查呈阳性的患者进行治疗，避免不必要的治疗。《先天性甲状腺功能减退症大规模筛查指南》(1998年版)由日本儿科内分泌学会大规模筛查委员会于1998年制定。随后，关于成人期预后和问题的新发现出现了。根据这些新的发现，1998年的指导方针在当前的文件中进行了修订(以下简称“指导方针”)。目标疾病/病症:原发性先天性甲状腺功能减退症。指南的使用者:儿科内分泌内科专家、儿科专家、将患者转诊给儿科执业医师的医生、全科医生、负责大规模筛查的实验室技术人员和患者。

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引用次数: 41

A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2 一种新的基因内缺失TRAPPC2导致迟发性脊柱骨骺发育不良1例

IF 1.4 Q4 ENDOCRINOLOGY & METABOLISM

Clinical Pediatric Endocrinology

Pub Date : 2015-07-01 DOI: 10.1297/cpe.24.139

M. Takagi, H. Yagi, Yoshie Nakamura, Hiroyuki Shinohara, Ryojun Takeda, A. Shimada, G. Nishimura, Y. Hasegawa

Spondyloepiphyseal dysplasia tarda (SEDT; MIM # 313400) is a rare X-linked recessive skeletal disease characterized by disproportionate short stature with vertebral malformation and degenerative changes involving the spine and major joints (1). During infancy and early childhood, affected males show normal development and unremarkable findings on radiographs (1). Clinical expression of SEDT begins with a flattening of the growth curve before puberty. At this time, radiographs show characteristic deformities of the vertebrae, including platyspondyly with a posterior hump. Degenerative joint disease is a common problem in male patients making hip joint replacement often necessary in the fourth or fifth decade of life (2). The causative gene of SEDT is TRAPPC2, which encodes trafficking protein particle complex subunit 2, a 140 amino acid protein, also known as Sedlin. TRAPPC2 may play a role in vesicular transport from the endoplasmic reticulum to the Golgi (3, 4). To date, 50 TRAPPC2 mutations have been reported in families with SEDT of different ethnic origin (Human Gene Mutation Database; http://www.hgmd.cf.ac.uk/ac). The underlying mutations are spread over the entire coding region of the TRAPPC2 gene comprising exons 3-6, without clear genotype-phenotype correlation. Here, we report a Japanese SEDT patient with a novel intragenic deletion mutation in TRAPPC2.

迟发性脊椎骺发育不良(SEDT);MIM # 313400)是一种罕见的x链隐性骨骼疾病，其特征是不成比例的身材矮小，并伴有脊柱和主要关节的椎体畸形和退行性改变(1)。在婴儿期和幼儿期，受影响的男性发育正常，x线片上的表现不显著(1)。SEDT的临床表现始于青春期前生长曲线变平。此时，x线片显示椎骨特征性畸形，包括脊椎骨后隆起。退行性关节疾病是男性患者的常见问题，通常在40岁或50岁时需要进行髋关节置换术(2)。SEDT的致病基因是TRAPPC2，它编码转运蛋白颗粒复合体亚基2，一种140个氨基酸的蛋白，也称为Sedlin。TRAPPC2可能在从内质网到高尔基体的囊泡运输中发挥作用(3,4)。迄今为止，在不同种族的SEDT家族中已经报道了50个TRAPPC2突变(Human Gene Mutation Database;http://www.hgmd.cf.ac.uk/ac)。潜在的突变分布在TRAPPC2基因的整个编码区，包括外显子3-6，没有明确的基因型-表型相关性。在这里，我们报告了一名日本SEDT患者，其TRAPPC2基因出现了一种新的基因内缺失突变。

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引用次数: 2

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