Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis.
Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis.
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先天性疼痛不敏感伴无汗症患者的口腔和颅面部表现以及 NTRK1 基因的两种新错义突变
DOI：
10.1371/journal.pone.0066863
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Xuan K
中科院分区：
文献类型：
--
作者：
Gao L;Guo H;Ye N;Bai Y;Liu X;Yu P;Xue Y;Ma S;Wei K;Jin Y;Wen L;Xuan K
先天性疼痛不敏感伴无汗症（CIPA）是一种罕见的周围神经系统遗传性疾病，由神经营养酪氨酸激酶受体1基因（NTRK 1）突变引起，该基因编码高亲和力神经生长因子受体TRKA。在这里，我们调查了一个中国患者的口腔和颅面的表现受常染色体隐性CIPA和确定复合杂合性NTRK 1基因。受影响的男孩有多系统疾病，对疼痛刺激缺乏反应，伴有自残行为，无法出汗，导致体温调节缺陷，以及智力迟钝。口腔和颅面表现包括大量牙齿缺失、鼻畸形、粘膜下腭裂、严重软组织损伤、龋齿和错牙合畸形。皮肤样本的组织学评价显示严重的外周神经纤维损失以及汗腺的轻度损失和缺乏神经支配。脱落牙齿的超微结构和形态学研究显示牙齿异常，包括矿化不足，牙本质发育不全，牙骨质形成缺陷和牙周膜发育不良。遗传分析显示NTRK 1基因存在复合杂合性- c.1561T>C和c.2057G>A。该报告扩展了在诊断为CIPA的患者中观察到的NTRK 1突变谱，并为临床和分子诊断提供了额外的见解。
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder of the peripheral nervous system resulting from mutations in neurotrophic tyrosine kinase receptor 1 gene (NTRK1), which encodes the high-affinity nerve growth factor receptor TRKA. Here, we investigated the oral and craniofacial manifestations of a Chinese patient affected by autosomal-recessive CIPA and identified compound heterozygosity in the NTRK1 gene. The affected boy has multisystemic disorder with lack of reaction to pain stimuli accompanied by self-mutilation behavior, the inability to sweat leading to defective thermoregulation, and mental retardation. Oral and craniofacial manifestations included a large number of missing teeth, nasal malformation, submucous cleft palate, severe soft tissue injuries, dental caries and malocclusion. Histopathological evaluation of the skin sample revealed severe peripheral nerve fiber loss as well as mild loss and absent innervation of sweat glands. Ultrastructural and morphometric studies of a shed tooth revealed dental abnormalities, including hypomineralization, dentin hypoplasia, cementogenesis defects and a dysplastic periodontal ligament. Genetic analysis revealed a compound heterozygosity- c.1561T>C and c.2057G>A in the NTRK1 gene. This report extends the spectrum of NTRK1 mutations observed in patients diagnosed with CIPA and provides additional insight for clinical and molecular diagnosis.
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影响因子：
9.8
作者：
Mardy, S;Miura, Y;Indo, Y
通讯作者：
Indo, Y
影响因子：
3.9
作者：
Indo, Y
通讯作者：
Indo, Y
影响因子：
2.8
作者：
Verpoorten, N;Claeys, KG;Nelis, E
通讯作者：
Nelis, E
DOI：
10.1302/0301-620x.84b2.11939
发表时间：
2002-03-01
影响因子：
--
作者：
Bar-On, E;Weigl, D;Steinberg, T
通讯作者：
Steinberg, T
影响因子：
4.8
作者：
Miranda, C;Di Virgilio, M;Greco, A
通讯作者：
Greco, A