SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA):: evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA):: evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
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DOI：
10.1136/jmg.2004.024208
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发表时间：
2005-02-01
影响因子：
4
通讯作者：
Griffith, AJ
中科院分区：
文献类型：
--
作者：
Pryor, SP;Madeo, AC;Griffith, AJ
方法受试者包括39例EVA患者及其31个家系的正常亲属。这些家庭中共有84%是高加索人。受影响的患者包括17名男性和22名女性，年龄从2岁到59岁不等。受影响受试者的资格标准是CT或MRI成像的至少一只耳朵的EVA。EVA的定义是位于后颅窝和内耳前庭之间中点的前庭导水管(VA)直径超过1.5 mm，或VA的整体形态严重畸形。1这项研究得到了NINDS/NIDCD机构审查委员会(美国国立卫生研究院，马里兰州贝塞斯达)的批准，所有受试者都获得了书面知情同意。每个受影响的受试者都在NIH临床中心接受临床评估。这包括详细的病史和体检(由SPP或AJG进行)。进行了与年龄相适应的听力测试，并回顾了过去的听力学记录。进行尿液分析和肾脏超声检查，以确定肾脏异常的患者。进行甲状腺超声检查以确定有无甲状腺肿。只要有可能，内耳的高分辨率成像是在1.5TMRI上使用采用稳态激发(FIESTA)的快速感应和/或T2加权快速自旋回波进行的
METHODS Subjects Our subjects consisted of 39 affected subjects with EVA and their unaffected relatives from 31 families. A total of 84% of these families were Caucasian. Affected individuals included 17 males and 22 females ranging in age from 2 to 59 years old. The eligibility criterion for an affected subject was EVA in at least one ear imaged by CT or MRI. EVA was defined as a vestibular aqueduct (VA) diameter exceeding 1.5 mm at the midpoint between the posterior cranial fossa and the vestibule of the inner ear, or a grossly malformed overall morphology of the VA. 1 The study was approved by the joint NINDS/NIDCD Institutional Review Board (National Institutes of Health, Bethesda, MD) and written informed consent was obtained for all subjects.Clinical evaluation Each affected subject was evaluated at the NIH Clinical Center. This included a detailed medical history and physical examination (by SPP or AJG). Age appropriate audiometry was performed and past audiology records were reviewed when available. Urinalysis and renal ultrasound examinations were obtained in order to identify patients with renal abnormalities. Thyroid ultrasound was performed to determine presence or absence of goitre. Whenever possible, high resolution imaging of the inner ear was performed using a fast induction employing steady state excitation (FIESTA) and/or a T2 weighted, fast spin echo on a 1.5 T MRI