TITLE

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

AUTHOR(S)
Hilger, Alina; Schramm, Charlotte; Pennimpede, Tracie; Wittler, Lars; Dworschak, Gabriel C; Bartels, Enrika; Engels, Hartmut; Zink, Alexander M; Degenhardt, Franziska; Müller, Annette M; Schmiedeke, Eberhard; Grasshoff-Derr, Sabine; Märzheuser, Stefanie; Hosie, Stuart; Holland-Cunz, Stefan; Wijers, Charlotte HW; Marcelis, Carlo LM; van Rooij, Iris ALM; Hildebrandt, Friedhelm; Herrmann, Bernhard G
PUB. DATE
December 2013
SOURCE
European Journal of Human Genetics;Dec2013, Vol. 21 Issue 12, p1377
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The acronym VATER/VACTERL association describes the combination of at least three of the following congenital anomalies: vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). We aimed to identify highly penetrant de novo copy number variations (CNVs) that contribute to VATER/VACTERL association. Array-based molecular karyotyping was performed in a cohort of 41 patients with VATER/VACTERL association and 6 patients with VATER/VACTERL-like phenotype including all of the patients' parents. Three de novo CNVs were identified involving chromosomal regions 1q41, 2q37.3, and 8q24.3 comprising one (SPATA17), two (CAPN10, GPR35), and three (EPPK1, PLEC, PARP10) genes, respectively. Pre-existing data from the literature prompted us to choose GPR35 and EPPK1 for mouse expression studies. Based on these studies, we prioritized GPR35 for sequencing analysis in an extended cohort of 192 patients with VATER/VACTERL association and VATER/VACTERL-like phenotype. Although no disease-causing mutation was identified, our mouse expression studies suggest GPR35 to be involved in the development of the VATER/VACTERL phenotype. Follow-up of GPR35 and the other genes comprising the identified duplications is warranted.
ACCESSION #
91944794

 

Related Articles

  • Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Fu, Wenqing; O'Connor, Timothy D.; Jun, Goo; Kang, Hyun Min; Abecasis, Goncalo; Leal, Suzanne M.; Gabriel, Stacey; Altshuler, David; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; NHLBI Exome Sequencing Project; Akey, Joshua M. // Nature;1/10/2013, Vol. 493 Issue 7431, p216 

    Establishing the age of each mutation segregating in contemporary human populations is important to fully understand our evolutionary history and will help to facilitate the development of new approaches for disease-gene discovery. Large-scale surveys of human genetic variation have reported...

  • Lack of association between four SNPs in the SLC22A3-LPAL2-LPA gene cluster and coronary artery disease in a Chinese Han population: a case control study. Xiaofei Lv; Yuan Zhang; Shaoqi Rao; Fengqiong Liu; Xiaoyu Zuo; Dongfang Su; Min Wang; Min Xia; Honghui Guo; Dan Feng; Changjiang Hong; Dan Li; Wenjun Ma; Ping Ouyang; Xinrui Li; Xiang Feng; Yan Yang; Wenhua Ling; Jian Qiu // Lipids in Health & Disease;2012, Vol. 11 Issue 1, p128 

    Background: Lipoprotein (a) (Lp [a]) is known being correlated with coronary artery disease (CAD). The SLC22A3-LPAL2-LPA gene cluster, relating with modulating the level of plasma Lp (a), has recently been reported to be associated with CAD in Caucasians. The purpose of this study was to verify...

  • High Resolution Discrimination of Clinical Mycobacterium tuberculosis Complex Strains Based on Single Nucleotide Polymorphisms. Homolka, Susanne; Projahn, Michaela; Feuerriegel, Silke; Ubben, Tanja; Diel, Roland; Nübel, Ulrich; Niemann, Stefan // PLoS ONE;Jul2012, Vol. 7 Issue 7, p1 

    Recently, the diversity of the Mycobacterium tuberculosis complex (MTBC) population structure has been described in detail. Based on geographical separation and specific host pathogen co-evolution shaping MTBC virulence traits, at least 20 major lineages/genotypes have evolved finally leading to...

  • Variation in Salivary and Pancreatic Alpha-Amylase Genes in Italian Horse Breeds. Coizet, Beatrice; Nicoloso, Letizia; Marletta, Donata; Tamiozzo-Calligarich, Alessandra; Pagnacco, Giulio; Crepaldi, Paola // Journal of Heredity;May/Jun2014, Vol. 105 Issue 3, p429 

    The dietary demand of the modern horse relies on high-cereal feeding and limited forage compared with natural grazing conditions, predisposing the horse to several important diseases. Salivary and pancreatic alpha-amylases (coded by AMY1 and AMY2 genes, respectively) play a crucial role in...

  • The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Alkuraya, Fowzan // Human Genetics;Nov2013, Vol. 132 Issue 11, p1197 

    Autozygosity, or the inheritance of two copies of an ancestral allele, has the potential to not only reveal phenotypes caused by biallelic mutations in autosomal recessive genes, but to also facilitate the mapping of such mutations by flagging the surrounding haplotypes as tractable runs of...

  • Correction: Integrative Modeling of eQTLs and Cis-Regulatory Elements Suggests Mechanisms Underlying Cell Type Specificity of eQTLs.  // PLoS Genetics;Jul2014, Vol. 10 Issue 7, p1 

    A correction to the article "Integrative Modeling of eQTLs and Cis-Regulatory Elements Suggests Mechanisms Underlying Cell type Specificity of eQTLs" that was published in the August 1, 2013 issue is presented.

  • Genotyping: Predicting genotypes from gene expression data. Muers, Mary // Nature Reviews Genetics;Jun2012, Vol. 13 Issue 6, p379 

    The article discusses the use of Bayesian approach in predicting the single nucleotide polymorphism (SNP) genotypes from RNA gene expressions, which references the article "Bayesian method to predict individual SNP genotypes from gene expression data," by E. E. Schadt and colleagues in the 2012...

  • Study of single-nucleotide polymorphism within candidate genes associated with type 2 diabetes in Western Indian population. Shahrjerdi, Alireza; Jadhav, B. L.; Jamkhedkar, Suruchi // Journal of Pharmacy Research;2013, Vol. 6/7 Issue 2, p233 

    Aim: To evaluate linkage between single nucleotide polymorphisms within the known risk candidate genes of type 2 diabetes in Western Indian population. Material and method: The study population was comprised of 25 normal glucose tolerant individuals (12 males and 13 females) and 25 type 2...

  • Mismatch and G-Stack Modulated Probe Signals on SNP Microarrays.  // PLoS ONE;2009, Vol. 4 Issue 11, p1 

    The article offers information on the study conducted by the authors related to the modulated probe signals on single nucleotide polymorphism (SNP) microarrays. It states that SNP arrays are important tools widely used for genotyping and copy number estimation. It utilizes the specific affinity...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics