Phenotypic diversity of patients diagnosed with VACTERL association

American Journal of Medical Genetics. Part a
Majid HusainVirginia Kimonis

Abstract

The combination of vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies termed VACTERL association, also referred to as VATER, has been used as a clinical descriptor and more recently, a diagnosis of exclusion, for a specific group of phenotypic manifestations that have been observed to co-occur non-randomly. Though the causes remain elusive and poorly understood in most patients, VACTERL association is thought to be due to defects in early embryogenesis and is likely genetically heterogeneous. We present data on 36 patients diagnosed with VACTERL association in addition to describing the phenotypic diversity of each component feature. Unique cases in our cohort include a patient with a 498.59 kb microdeletion in the 16p11.2 region and another with a 215 kb duplication in the 3p25.2 region. Our findings expand upon the current understanding of VACTERL association and guide future research aimed at determining its etiology.

References

Apr 1, 1978·Clinical Genetics·N N FinerL G Dunbar
Dec 1, 1977·The Journal of Pediatrics·R M McNealU Francke
Nov 1, 1992·American Journal of Medical Genetics·J A EvansA Czeizel
Mar 1, 1986·American Journal of Diseases of Children·D D WeaverP L Yu
Mar 1, 1986·American Journal of Diseases of Children·G J HauserL W Young
Sep 1, 1974·The Journal of Pediatrics·S A Temtamy, J D Miller
Dec 1, 1971·The Journal of Pediatrics·B SayA Hi csönmez
Feb 1, 1982·Clinical Genetics·I A Auchterlonie, M P White
Aug 1, 1995·Journal of Pediatric Surgery·D KluthW Lambrecht
Jun 28, 1996·American Journal of Medical Genetics·K P McMullenV V Michels
Jun 28, 1996·American Journal of Medical Genetics·M RittlerE E Castilla
Jul 11, 1997·American Journal of Medical Genetics·L D BottoY Sumiyoshi
May 1, 1998·Teratology·R A NievelsteinC Vermeij-Keers
Jun 8, 1999·Journal of Pediatric Surgery·C N PaidasG M Hutchins
Aug 10, 1999·Journal of Clinical Ultrasound : JCU·T TongsongJ Sudasana
May 22, 2001·Clinical Genetics·J KimC C Hui
Sep 2, 2003·American Journal of Medical Genetics. Part a·Duangrurdee WattanasirichaigoonBruce R Korf
Apr 4, 2006·The Surgical Clinics of North America·Stanley T Lau, Michael G Caty
May 15, 2007·Orphanet Journal of Rare Diseases·Lewis Spitz
Jun 19, 2007·European Journal of Medical Genetics·C StollM P Roth
Jan 9, 2008·Birth Defects Research. Part A, Clinical and Molecular Teratology·Marco CastoriPaola Grammatico
Jan 11, 2008·Birth Defects Research. Part A, Clinical and Molecular Teratology·Elisabeth M de JongDick Tibboel
Jan 28, 2009·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Sun-Young AhnVivian Reznik
Sep 23, 2009·European Journal of Medical Genetics·Keiko ShimojimaToshiyuki Yamamoto
Apr 7, 2010·Human Genetics·Benjamin D SolomonDerek A T Cummings
Jun 17, 2010·European Journal of Human Genetics : EJHG·Elisabeth M de JongAnnelies de Klein
Jul 6, 2010·European Journal of Medical Genetics·Paulo R G ZenGiorgio A Paskulin
Aug 5, 2010·American Journal of Medical Genetics. Part a·Benjamin D SolomonDerek A T Cummings
Sep 21, 2010·European Journal of Medical Genetics·Charlotte SchrammHeiko Reutter
Oct 5, 2010·European Journal of Medical Genetics·Manu S RaamBenjamin D Solomon
Oct 21, 2010·European Journal of Human Genetics : EJHG·Christian P SchaafMarwan Shinawi
Oct 26, 2010·Birth Defects Research. Part A, Clinical and Molecular Teratology·James L Mills
May 25, 2011·Birth Defects Research. Part A, Clinical and Molecular Teratology·Benjamin D SolomonSettara C Chandrasekharappa
Jul 9, 2011·American Journal of Medical Genetics. Part a·Ekkehart JenetzkyIris A L M van Rooij
Aug 19, 2011·Orphanet Journal of Rare Diseases·Benjamin D Solomon

❮ Previous
Next ❯

Citations

Sep 10, 2019·Pediatric Research·Romy van de PutteJorieke E H Bergman
Dec 5, 2020·Human Molecular Genetics·Ella M M A MartinGavin Chapman
Jul 2, 2021·Pediatric Research·Renata H BenjaminA J Agopian

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.