FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients

PloS One
Avani SolankiBabu Rao Vundinti

Abstract

Fanconi anemia (FA), a rare heterogeneous genetic disorder, is known to be associated with 19 genes and a spectrum of clinical features. We studied FANCA molecular changes in 34 unrelated and 2 siblings of Indian patients with FA and have identified 26 different molecular changes of FANCA gene, of which 8 were novel mutations (a small deletion c.2500delC, 4 non-sense mutations c.2182C>T, c.2630C>G, c.3677C>G, c.3189G>A; and 3 missense mutations; c.1273G>C, c.3679 G>C, and c.3992 T>C). Among these only 16 patients could be assigned FA-A complementation group, because we could not confirm single exon deletions detected by MLPA or cDNA amplification by secondary confirmation method and due to presence of heterozygous non-pathogenic variations or heterozygous pathogenic mutations. An effective molecular screening strategy should be developed for confirmation of these mutations and determining the breakpoints for single exon deletions.

References

Mar 27, 1999·European Journal of Human Genetics : EJHG·M Wijker CG Mathew
Oct 16, 1999·American Journal of Human Genetics·N V MorganC G Mathew
Nov 25, 2000·British Journal of Haematology·H TamaryR Zaizov
May 10, 2001·Proceedings of the National Academy of Sciences of the United States of America·A J TippingC G Mathew
Nov 22, 2002·Human Molecular Genetics·Daiki AdachiTakayuki Yamashita
Jan 2, 2003·Nature Reviews. Cancer·Alan D D'Andrea, Markus Grompe
Oct 27, 2004·Nature Genetics·Amom Ruhikanta MeeteiHans Joenje
Aug 9, 2005·Molecular Therapy : the Journal of the American Society of Gene Therapy·Saurabh ChandraDavid A Williams
Oct 11, 2007·Human Mutation·Najim AmezianeHans Joenje
Apr 16, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nabil N MoghrabiC Sue Richards
May 26, 2009·Mutation Research·Kornelia NevelingDetlev Schindler
Apr 27, 2010·Blood Reviews·Akiko Shimamura, Blanche P Alter
Jun 14, 2012·Anemia·Anneke B OostraJohan P de Winter
Aug 30, 2014·Human Mutation·Elizabeth K FlynnSettara C Chandrasekharappa
May 9, 2015·Italian Journal of Pediatrics·Ponnumony John SolomonSoo Hyun Seo
Aug 10, 2015·Current Opinion in Genetics & Development·Massimo Bogliolo, Jordi Surrallés
Oct 6, 2015·Annual Review of Genetics·Feng He, Allan Jacobson

❮ Previous
Next ❯

Citations

Dec 27, 2016·Leukemia Research·Avani SolankiBabu Rao Vundinti
Jan 16, 2020·PloS One·Avani SolankiBabu Rao Vundinti
Oct 23, 2020·International Journal of Preventive Medicine·Samira NegahdariHamid Galehdari
Mar 9, 2021·Frontiers in Genetics·Abir Ben Haj AliAhlem Amouri
May 8, 2021·Molecular Genetics & Genomic Medicine·Ashley S ThompsonSadia Rehman

❮ Previous
Next ❯

Methods Mentioned

BETA
electrophoresis
PCR

Software Mentioned

PolyPhen
ChromasLite

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.