Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes

American Journal of Medical Genetics. Part a
L A KatzJ C Murray

Abstract

Omphalocele is a congenital anomaly with substantial morbidity. Rieger syndrome, an autosomal dominant disorder, is characterized by craniofacial abnormalities and abdominal wall defects. PITX2 mutations are etiologic in >40% of cases of Rieger syndrome. We demonstrate that the birth prevalence of omphalocele is significantly higher in Rieger syndrome than in the general population, with omphaloceles found in 0.03% in the Iowa newborn population and 4.3% of patients with Rieger syndrome. Our objective was to screen coding and conserved non-coding regions of PITX2 for mutations in 209 patients with omphalocele. We identified remarkable evolutionarily conserved regions by comparing the 3'UTR of Pitx2 in 13 vertebrate and 3 invertebrate species. No mutations changing the amino acid sequence were found within the omphalocele population. In one case of omphalocele with VATER-like additional anomalies, a three nucleotide deletion was found in the 3'UTR. This deletion was not seen in 1,186 controls. Also in the 3'UTR, we identified a single nucleotide polymorphism at a highly conserved residue. Our findings suggest additional studies of PITX2 conserved regions will be valuable. We also screened the omphalocele cases for mutations in e...Continue Reading

References

Nov 15, 1992·American Journal of Medical Genetics·P YangL Gordis
May 1, 1985·Survey of Ophthalmology·M B ShieldsR Thresher
Jul 29, 1994·Cell·W J GehringK Wüthrich
Aug 28, 1995·American Journal of Medical Genetics·E CalzolariM Milan
Jan 1, 1997·Progress in Nucleic Acid Research and Molecular Biology·L E Rajagopalan, J S Malter
Jul 11, 1997·American Journal of Medical Genetics·L D BottoY Sumiyoshi
May 16, 1998·Genome Research·D GordonP Green
May 26, 1999·FEMS Microbiology Letters·T A Tatusova, T L Madden
Sep 3, 1999·Teratology·M B Forrester, R D Merz
Apr 13, 2001·The Journal of Biological Chemistry·I SaadiA F Russo
Feb 22, 2002·Paediatric and Perinatal Epidemiology·M Bugge, N V Holm
Mar 13, 2002·Public Health Reports·P W YoonL D Edmonds
Apr 17, 2002·Science·Howard M CannL Luca Cavalli-Sforza
Oct 24, 2002·American Journal of Human Genetics·Jeffrey E Ming, Maximilian Muenke
Mar 4, 2003·Nature Genetics·Stephen P RobertsonUNKNOWN OPD-spectrum Disorders Clinical Collaborative Group
Jun 26, 2003·Nucleic Acids Research·Luca CartegniAdrian R Krainer

❮ Previous
Next ❯

Citations

Sep 3, 2010·Pediatric Surgery International·Polina FrolovMichael D Klein
Jan 25, 2011·Pediatric Surgery International·Takashi DoiJennifer Thompson
Jul 17, 2015·BMC Systems Biology·Randolph S FaustinoCarmen Perez-Terzic
Jul 13, 2005·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·M Michael Cohen
Oct 17, 2006·American Journal of Medical Genetics. Part a·Philip F GiampietroRobert D Blank
Sep 27, 2018·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·Z AliZ Stark
Sep 22, 2018·Disease Models & Mechanisms·Masanori TakahashiKiyoshi Kawakami
Aug 28, 2010·Gene·Diana EngChrissa Kioussi

❮ 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.