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A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing

Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized by congenital malformations, hematological problems and predisposition to malignancies. The genes that have been found to be mutated in FA patients are called FANC. To date 16 distinct FANC genes have...

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Autores principales: Solomon, Ponnumony John, Margaret, Priya, Rajendran, Ramya, Ramalingam, Revathy, Menezes, Godfred A, Shirley, Alph S, Lee, Seung Jun, Seong, Moon-Woo, Park, Sung Sup, Seol, Dodam, Seo, Soo Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438458/
https://www.ncbi.nlm.nih.gov/pubmed/25953249
http://dx.doi.org/10.1186/s13052-015-0142-6
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author Solomon, Ponnumony John
Margaret, Priya
Rajendran, Ramya
Ramalingam, Revathy
Menezes, Godfred A
Shirley, Alph S
Lee, Seung Jun
Seong, Moon-Woo
Park, Sung Sup
Seol, Dodam
Seo, Soo Hyun
author_facet Solomon, Ponnumony John
Margaret, Priya
Rajendran, Ramya
Ramalingam, Revathy
Menezes, Godfred A
Shirley, Alph S
Lee, Seung Jun
Seong, Moon-Woo
Park, Sung Sup
Seol, Dodam
Seo, Soo Hyun
author_sort Solomon, Ponnumony John
collection PubMed
description Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized by congenital malformations, hematological problems and predisposition to malignancies. The genes that have been found to be mutated in FA patients are called FANC. To date 16 distinct FANC genes have been reported. Among these, mutations in FANCA are the most frequent among FA patients worldwide which account for 60- 65%. In this study, a nine years old male child was brought to our hospital one year ago for opinion and advice. He was the third child born to consanguineous parents. The mutation analyses were performed for proband, parents, elder sibling and the relatives [maternal aunt and maternal aunt’s son (cousin)]. Molecular genetic testing [targeted next-generation sequencing (MiSeq, Illumina method)] was performed by mutation analysis in 15 genes involved. Entire coding exons and their flanking regions of the genes were analysed. Sanger sequencing [(ABI 3730 analyzer by Applied Biosystems)] was performed using primers specific for 43 coding exons of the FANCA gene. A novel splice site mutation, c.3066 + 1G > T, (IVS31 + 1G > T), homozygote was detected by sequencing in the patient. The above sequence variant was identified in heterozygous state in his parents. Further, the above sequence variant was not identified in other family members (elder sibling, maternal aunt and cousin). It is concluded that genetic study should be done if possible in all the cases of suspected FA, including siblings, parents and close blood relatives. It will help us to plan appropriate treatment and also to select suitable donor for hematopoietic stem cell transplantation and to plan for genetic counseling. In addition to the case report, the main focus of this manuscript was to review literature on role of FANCA gene in FA since large number of FANCA mutations and polymorphisms have been identified.
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spelling pubmed-44384582015-05-21 A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing Solomon, Ponnumony John Margaret, Priya Rajendran, Ramya Ramalingam, Revathy Menezes, Godfred A Shirley, Alph S Lee, Seung Jun Seong, Moon-Woo Park, Sung Sup Seol, Dodam Seo, Soo Hyun Ital J Pediatr Case Report Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized by congenital malformations, hematological problems and predisposition to malignancies. The genes that have been found to be mutated in FA patients are called FANC. To date 16 distinct FANC genes have been reported. Among these, mutations in FANCA are the most frequent among FA patients worldwide which account for 60- 65%. In this study, a nine years old male child was brought to our hospital one year ago for opinion and advice. He was the third child born to consanguineous parents. The mutation analyses were performed for proband, parents, elder sibling and the relatives [maternal aunt and maternal aunt’s son (cousin)]. Molecular genetic testing [targeted next-generation sequencing (MiSeq, Illumina method)] was performed by mutation analysis in 15 genes involved. Entire coding exons and their flanking regions of the genes were analysed. Sanger sequencing [(ABI 3730 analyzer by Applied Biosystems)] was performed using primers specific for 43 coding exons of the FANCA gene. A novel splice site mutation, c.3066 + 1G > T, (IVS31 + 1G > T), homozygote was detected by sequencing in the patient. The above sequence variant was identified in heterozygous state in his parents. Further, the above sequence variant was not identified in other family members (elder sibling, maternal aunt and cousin). It is concluded that genetic study should be done if possible in all the cases of suspected FA, including siblings, parents and close blood relatives. It will help us to plan appropriate treatment and also to select suitable donor for hematopoietic stem cell transplantation and to plan for genetic counseling. In addition to the case report, the main focus of this manuscript was to review literature on role of FANCA gene in FA since large number of FANCA mutations and polymorphisms have been identified. BioMed Central 2015-05-08 /pmc/articles/PMC4438458/ /pubmed/25953249 http://dx.doi.org/10.1186/s13052-015-0142-6 Text en © Solomon et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Solomon, Ponnumony John
Margaret, Priya
Rajendran, Ramya
Ramalingam, Revathy
Menezes, Godfred A
Shirley, Alph S
Lee, Seung Jun
Seong, Moon-Woo
Park, Sung Sup
Seol, Dodam
Seo, Soo Hyun
A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing
title A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing
title_full A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing
title_fullStr A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing
title_full_unstemmed A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing
title_short A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing
title_sort case report and literature review of fanconi anemia (fa) diagnosed by genetic testing
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438458/
https://www.ncbi.nlm.nih.gov/pubmed/25953249
http://dx.doi.org/10.1186/s13052-015-0142-6
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