The etiology of VACTERL association: Current knowledge and hypotheses

被引:39
作者
Solomon, Benjamin D. [1 ]
机构
[1] GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877 USA
关键词
VACTERL; VACTERL association; VATER; VATER association; VATER-ASSOCIATION; TRACHEOESOPHAGEAL FISTULA; CONGENITAL-MALFORMATIONS; ESOPHAGEAL ATRESIA; VERTEBRAL DEFECTS; FANCONI-ANEMIA; ANAL ATRESIA; ANOMALIES; VATER/VACTERL; IDENTIFICATION;
D O I
10.1002/ajmg.c.31664
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
VACTERL association is a condition involving the presence of multiple congenital anomalies. The condition was first described more than four decades ago, and is not extremely rare. However, relatively little is understood about the causes and underlying biology of the condition as a whole. There are many reasons for this, but there is increasing recognition that VACTERL is extremely clinically as well as etiologically heterogeneous, and this heterogeneity--as well as other hypothesized factors--have caused challenges to identifying the causes for a substantial proportion of patients. Current knowledge about the causes of this condition (or group of conditions) are described, followed by a discussion of possibilities that may reveal more answers for patients as well as researchers and clinicians who work related to this disorder.
引用
收藏
页码:440 / 446
页数:7
相关论文
共 65 条
[41]  
2-H
[42]   The Molecular Genetics of Holoprosencephaly [J].
Roessler, Erich ;
Muenke, Maximilian .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2010, 154C (01) :52-61
[43]   Is VACTERL a laterality defect? [J].
Sadler, Thomas W. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (11) :2563-2565
[44]   Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association [J].
Saisawat, Pawaree ;
Kohl, Stefan ;
Hilger, Alina C. ;
Hwang, Daw-Yang ;
Gee, Heon Yung ;
Dworschak, Gabriel C. ;
Tasic, Velibor ;
Pennimpede, Tracie ;
Natarajan, Sivakumar ;
Sperry, Ethan ;
Matassa, Danilo S. ;
Stajic, Natasa ;
Bogdanovic, Radovan ;
de Blaauw, Ivo ;
Marcelis, Carlo L. M. ;
Wijers, Charlotte H. W. ;
Bartels, Enrika ;
Schmiedeke, Eberhard ;
Schmidt, Dominik ;
Maerzheuser, Stefanie ;
Grasshoff-Derr, Sabine ;
Holland-Cunz, Stefan ;
Ludwig, Michael ;
Noethen, Markus M. ;
Draaken, Markus ;
Brosens, Erwin ;
Heij, Hugo ;
Tibboel, Dick ;
Herrmann, Bernhard G. ;
Solomon, Benjamin D. ;
de Klein, Annelies ;
van Rooij, Iris A. L. M. ;
Esposito, Franca ;
Reutter, Heiko M. ;
Hildebrandt, Friedhelm .
KIDNEY INTERNATIONAL, 2014, 85 (06) :1310-1317
[45]  
Shashi V, 2018, GENETICS MED
[46]   Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology [J].
Shaw-Smith, C. .
JOURNAL OF MEDICAL GENETICS, 2006, 43 (07) :545-554
[47]  
Shi HJ, 2017, NEW ENGL J MED, V377, P544, DOI [10.1056/NEJMoa1616361, 10.1056/nejmoa1616361]
[48]   Mitochondrial Factors and VACTERL Association-Related Congenital Malformations [J].
Siebel, S. ;
Solomon, B. D. .
MOLECULAR SYNDROMOLOGY, 2013, 4 (1-2) :63-73
[49]   Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association [J].
Solomon, B. D. ;
Pineda-Alvarez, D. E. ;
Hadley, D. W. ;
Hansen, N. F. ;
Kamat, A. ;
Donovan, F. X. ;
Chandrasekharappa, S. C. ;
Hong, S. -K. ;
Roessler, E. ;
Mullikin, J. C. .
MOLECULAR SYNDROMOLOGY, 2013, 4 (1-2) :27-31
[50]   A 2.5-year snapshot of Mendelian discovery [J].
Solomon, Benjamin D. ;
Lee, Teresa ;
Anh-Dao Nguyen ;
Wolfsberg, Tyra G. .
MOLECULAR GENETICS & GENOMIC MEDICINE, 2016, 4 (04) :392-394