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

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2018年 / 178卷 / 04期

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

页码：440 / 446

页数：7

共 65 条

[51] An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Esophageal Atresia, Cardiac Anomalies, Renal Anomalies, and Limb Anomalies) Association [J].

Solomon, Benjamin D. ;

Baker, Linda A. ;

Bear, Kelly A. ;

Cunningham, Bridget K. ;

Giampietro, Philip F. ;

Hadigan, Colleen ;

Hadley, Donald W. ;

Harrison, Steven ;

Levitt, Marc A. ;

Niforatos, Nickie ;

Paul, Scott M. ;

Raggio, Cathleen ;

Reutter, Heiko ;

Warren-Mora, Nicole .

JOURNAL OF PEDIATRICS, 2014, 164 (03) :451-+

[52] Clinical geneticists' views of VACTERL/VATER association [J].

Solomon, Benjamin D. ;

Bear, Kelly A. ;

Kimonis, Virginia ;

de Klein, Annelies ;

Scott, Daryl A. ;

Shaw-Smith, Charles ;

Tibboel, Dick ;

Reutter, Heiko ;

Giampietro, Philip F. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (12) :3087-3100

[53] De Novo Deletion of Chromosome 20q13.33 in a Patient with Tracheo-esophageal Fistula, Cardiac Defects and Genitourinary Anomalies Implicates GTPBP5 as a Candidate Gene [J].

Solomon, Benjamin D. ;

Pineda-Alvarez, Daniel E. ;

Hadley, Donald W. ;

Keaton, Amelia A. ;

Agochukwu, Nneamaka B. ;

Raam, Manu S. ;

Carlson-Donohoe, Hannah E. ;

Kamat, Aparna ;

Chandrasekharappa, Settara C. .

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2011, 91 (09) :862-865

[54] Analysis of Component Findings in 79 Patients Diagnosed With VACTERL Association [J].

Solomon, Benjamin D. ;

Pineda-Alvarez, Daniel E. ;

Raam, Manu S. ;

Bous, Sophia M. ;

Keaton, Amelia A. ;

Velez, Jorge I. ;

Cummings, Derek A. T. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (09) :2236-2244

[55] Evidence for inheritance in patients with VACTERL association [J].

Solomon, Benjamin D. ;

Pineda-Alvarez, Daniel E. ;

Raam, Manu S. ;

Cummings, Derek A. T. .

HUMAN GENETICS, 2010, 127 (06) :731-733

[56] A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis [J].

Sparrow, Duncan B. ;

Chapman, Gavin ;

Smith, Allanceson J. ;

Mattar, Muhammad Z. ;

Major, Joelene A. ;

O'Reilly, Victoria C. ;

Saga, Yumiko ;

Zackai, Elaine H. ;

Dormans, John P. ;

Alman, Benjamin A. ;

McGregor, Lesley ;

Kageyama, Ryoichiro ;

Kusumi, Kenro ;

Dunwoodie, Sally L. .

CELL, 2012, 149 (02) :295-306

[57] Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations [J].

Stankiewicz, Pawel ;

Sen, Partha ;

Bhatt, Samarth S. ;

Storer, Mekayla ;

Xia, Zhilian ;

Bejjani, Bassem A. ;

Ou, Zhishuo ;

Wiszniewska, Joanna ;

Driscoll, Daniel J. ;

Bolivar, Juan ;

Bauer, Mislen ;

Zackai, Elaine H. ;

McDonald-McGinn, Donna ;

Nowaczyk, Malgorzata M. J. ;

Murray, Mitzi ;

Shaikh, Tamim H. ;

Martin, Vicki ;

Tyreman, Matthew ;

Simonic, Ingrid ;

Willatt, Lionel ;

Paterson, Joan ;

Mehta, Sarju ;

Rajan, Diana ;

Fitzgerald, Tomas ;

Gribble, Susan ;

Prigmore, Elena ;

Patel, Ankita ;

Shaffer, Lisa G. ;

Carter, Nigel P. ;

Cheung, Sau Wai ;

Langston, Claire ;

Shaw-Smith, Charles .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (06) :780-791

[58] Considering the Embryopathogenesis of VACTERL Association [J].

Stevenson, R. E. ;

Hunter, A. G. W. .

MOLECULAR SYNDROMOLOGY, 2013, 4 (1-2) :7-15

[59] High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders [J].

Stosser, Mary Beth ;

Lindy, Amanda S. ;

Butler, Elizabeth ;

Retterer, Kyle ;

Piccirillo-Stosser, Caitlin M. ;

Richard, Gabriele ;

McKnight, Dianalee A. .

GENETICS IN MEDICINE, 2018, 20 (04) :403-410

[60] EXTENDING SCOPE OF VATER ASSOCIATION - DEFINITION OF VATER SYNDROME [J].

TEMTAMY, SA ;

MILLER, JD .

JOURNAL OF PEDIATRICS, 1974, 85 (03) :345-349

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