A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency

Background: Transcobalamin deficiency is a rare inborn metabolic disorder, characterized by pancytopenia, megaloblastic anemia, failure to thrive, diarrhea, and psychomotor retardation. Case presentation: We describe a patient who first presented at 3 months of age, with pancytopenia, hepatosplenome...

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Main Authors: Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon
Other Authors: Faculty of Medicine Ramathibodi Hospital, Mahidol University
Format: Article
Published: 2022
Subjects:
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/74272
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spelling th-mahidol.742722022-08-04T11:14:08Z A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency Pongpak Pongphitcha Nongnuch Sirachainan Arthaporn Khongkraparn Thipwimol Tim-Aroon Duantida Songdej Duangrurdee Wattanasirichaigoon Faculty of Medicine Ramathibodi Hospital, Mahidol University Medicine Background: Transcobalamin deficiency is a rare inborn metabolic disorder, characterized by pancytopenia, megaloblastic anemia, failure to thrive, diarrhea, and psychomotor retardation. Case presentation: We describe a patient who first presented at 3 months of age, with pancytopenia, hepatosplenomegaly, recurrent infection, metabolic acidosis, and acute hemolytic crisis. Extensive hematologic and immunologic investigations did not identify inherited bone marrow failure syndrome, acute leukemia or its related disorders. Whole exome sequencing identified a novel homozygous TCN2 mutation, c.428-2A > G and mRNA study confirmed an aberrant transcription of exon 4 skipping. The mutant protein is predicted to have an in-fame 51 amino acids deletion (NP_000346:p.Gly143_Val193del). The patient exhibited marked clinical improvement following hydroxocobalamin treatment. Conclusions: Transcobalamin deficiency should be investigated in infants with unexplained pancytopenia and acute hemolytic crisis with or without typical evidence of vitamin B12 deficiency. 2022-08-04T04:14:08Z 2022-08-04T04:14:08Z 2022-12-01 Article BMC Pediatrics. Vol.22, No.1 (2022) 10.1186/s12887-022-03291-5 14712431 2-s2.0-85128920429 https://repository.li.mahidol.ac.th/handle/123456789/74272 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85128920429&origin=inward
institution Mahidol University
building Mahidol University Library
continent Asia
country Thailand
Thailand
content_provider Mahidol University Library
collection Mahidol University Institutional Repository
topic Medicine
spellingShingle Medicine
Pongpak Pongphitcha
Nongnuch Sirachainan
Arthaporn Khongkraparn
Thipwimol Tim-Aroon
Duantida Songdej
Duangrurdee Wattanasirichaigoon
A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency
description Background: Transcobalamin deficiency is a rare inborn metabolic disorder, characterized by pancytopenia, megaloblastic anemia, failure to thrive, diarrhea, and psychomotor retardation. Case presentation: We describe a patient who first presented at 3 months of age, with pancytopenia, hepatosplenomegaly, recurrent infection, metabolic acidosis, and acute hemolytic crisis. Extensive hematologic and immunologic investigations did not identify inherited bone marrow failure syndrome, acute leukemia or its related disorders. Whole exome sequencing identified a novel homozygous TCN2 mutation, c.428-2A > G and mRNA study confirmed an aberrant transcription of exon 4 skipping. The mutant protein is predicted to have an in-fame 51 amino acids deletion (NP_000346:p.Gly143_Val193del). The patient exhibited marked clinical improvement following hydroxocobalamin treatment. Conclusions: Transcobalamin deficiency should be investigated in infants with unexplained pancytopenia and acute hemolytic crisis with or without typical evidence of vitamin B12 deficiency.
author2 Faculty of Medicine Ramathibodi Hospital, Mahidol University
author_facet Faculty of Medicine Ramathibodi Hospital, Mahidol University
Pongpak Pongphitcha
Nongnuch Sirachainan
Arthaporn Khongkraparn
Thipwimol Tim-Aroon
Duantida Songdej
Duangrurdee Wattanasirichaigoon
format Article
author Pongpak Pongphitcha
Nongnuch Sirachainan
Arthaporn Khongkraparn
Thipwimol Tim-Aroon
Duantida Songdej
Duangrurdee Wattanasirichaigoon
author_sort Pongpak Pongphitcha
title A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency
title_short A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency
title_full A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency
title_fullStr A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency
title_full_unstemmed A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency
title_sort novel tcn2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin ii deficiency
publishDate 2022
url https://repository.li.mahidol.ac.th/handle/123456789/74272
_version_ 1763489472653033472

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