|
|
|
| Prenatal diagnosis of Joubert syndrome:one case report and literature review |
| WEN Hong1, CHEN Lu1, YAN Kai2, HE Jing1 |
1. Department of Obstetrics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China;
2. Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China |
|
|
|
Abstract A 25-year-old nulliparity underwent prenatal ultrasonography, and the fetal cerebellar abnormality was suspected. The fetal MRI showed ‘molar tooth sign’ in midbrain and cerebellar vermis hypoplasia. The fetal cerebellar vermis hypoplasia was confirmed by MRI imaging and autopsy after induced abortion. The next-generation sequencing showed that the fetus had a heterozygous mutation of CC2D2A gene (c.2728C > T and c.4598T > C), which might be the cause of the disease.
|
|
Received: 15 February 2017
Published: 25 June 2017
|
|
|
产前诊断Joubert综合征一例并文献复习
一例25岁孕妇，产前超声检查发现胎儿小脑蚓部异常，胎儿MRI检查发现脑干"磨牙征"，小脑上蚓部仅见少量组织。引产后胎儿MRI检查和尸体解剖发现小脑蚓部发育不良，第二代基因测序技术发现胎儿染色体CC2D2A基因存在c.2728C > T和c.4598T > C的复合杂合突变基因。
关键词：
产前诊断,
先天畸形,
小脑,
磁共振成像,
染色体畸变,
病例报告
|
|
| [1] ROMANI M, MICALIZZI A, VALENTE E M. Joubert syndrome:congenital cerebellar ataxia with the molar tooth[J]. Lancet Neurol,2013,12(9):894-905.
[2] PARISI M A. Clinical and molecular features of Joubert syndrome and related disorders[J]. Am J Med Genet C Semin Med Genet,2009,151C(4):326-340.
[3] BRANCATI F, DALLAPICCOLA B, VALENTE E M. Joubert syndrome and related disorders[J]. Orphanet J Rare Dis,2010,5:20.
[4] PUGASH D, OH T, GODWIN K, et al. Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome[J]. Ultrasound Obstet Gynecol,2011,38(5):598-602.
[5] BOLTSHAUSER E, ISLER W. Joubert syndrome:episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis[J]. Neuropadiatrie,1977,8(1):57-66.
[6] 朱珍,帕米尔,朱杰明,等.Joubert综合征的CT和MRI诊断[J].中华放射学杂志,2005,39(12):1256-1259. ZHU Zhen, PA Mier, ZHU Jieming, et al. CT and MRI diagnosis of Joubert syndrome[J]. Chinese Journal of Radiology,2005,39(12):1256-1259. (in Chinese)
[7] SALEEM S N, ZAKI M S. Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders[J]. AJNR Am J Neuroradiol,2010,31(3):424-429.
[8] QUARELLO E, MOLHO M, GAREL C, et al. Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders[J]. Ultrasound Obstet Gynecol,2014,43(2):227-232.
[9] MARIA B L, QUISLING R G, ROSAINZ L C, et al. Molar tooth sign in Joubert syndrome:clinical, radiologic, and pathologic significance[J]. J Child Neurol,1999,14(6):368-376.
[10] PORETTI A, BOLTSHAUSER E, LOENNEKER T, et al. Diffusion tensor imaging in Joubert syndrome[J]. AJNR Am J Neuroradiol,2007,28(10):1929-1933.
[11] 赵胜,陈欣林,杨小红,等.产前超声、MRI诊断Joubert综合征及相关小脑异常的临床研究[J].中华超声影像学杂志,2015,24(10):907-909. ZHAO Sheng, CHEN Xinlin, YANG Xiaohong, et al. Prenatal ultrasound and MRI diagnosis of Joubert syndrome and cerebellum disorders[J]. Chinese Journal of Ultrasonography,2015,24(10):907-909. (in Chinese)
[12] MARIA B L, HOANG K B, TUSA R J, et al. "Joubert syndrome" revisited:key ocular motor signs with magnetic resonance imaging correlation[J]. J Child Neurol,1997,12(7):423-430.
[13] VALENTE E M, BRANCATI F, BOLTSHAUSER E, et al. Clinical utility gene card for:Joubert syndrome-update 2013[J]. Eur J Hum Genet,2013,21(10):1035-1041.
[14] YING S H, CHOI S I, PERLMAN S L, et al. Pontine and cerebellar atrophy correlate with clinical disability in SCA2[J]. Neurology,2006,66(3):424-426.
[15] ZAKI M S, ABDEL-ALEEM A, ABDEL-SALAM G, et al. The molar tooth sign:a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families[J]. Neurology,2008,70(7):556-565.
[16] VALENTE E M, MARSH S E, CASTORI M, et al. Distinguishing the four genetic causes of Jouberts syndrome-related disorders[J]. Ann Neurol,2005,57(4):513-519.
[17] SUZUKI T, MIYAKE N, TSURUSAKI Y, et al. Molecular genetic analysis of 30 families with Joubert syndrome[J]. Clin Genet,2016,90(6):526-535.
[18] SALEEM S N, ZAKI M S, SOLIMAN N A, et al. Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders[J]. Neuropediatrics,2011,42(1):35-38. |
|
Viewed |
|
|
|
Full text
|
|
|
|
|
Abstract
|
|
|
|
|
Cited |
|
|
|
|
| |
Shared |
|
|
|
|
| |
Discussed |
|
|
|
|
