Open AccessCongenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing
Author(s) -
Lin PeiChin,
Cheng ChaoNeng,
Huang HsiYuan,
Tseng YuHsin,
Chang YaSian,
Lin ChienYu,
Chang JanGowth
Publication year - 2020
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1220
Subject(s) - exome sequencing , sanger sequencing , dna sequencing , genetics , exome , mutation , anemia , medicine , biology , bioinformatics , gene
Background Congenital dyserythropoiesis anemia type Ia (OMIM:224120), is a rare hereditary anemia. The diagnosis is difficult to make and usually delayed in part due to its rarity and nonspecific clinical manifestations. Methods Whole exome sequencing was applied for the genetic diagnosis of a 12‐year‐old boy who has suffered from hemolytic anemia since birth and who requires regular transfusions. Sanger sequencing of the variants detected in whole exome sequencing was performed in the patient and his parents. Results Compound heterozygous mutations of CDAN1 gene, including one previously reported and one novel mutation, which is a splicing change, were detected in the whole exome sequencing and confirmed by Sanger sequencing. The autosomal recessive inheritance was confirmed by pedigree analysis. Conclusion To our knowledge, this is the first case report of congenital dyserythropoiesis anemia type Ia with genetic diagnosis to be located in Taiwan. Because of the rarity of CDA Ia and the overlapping of the clinical manifestations with other hereditary anemias, the next‐generation sequencing approach is effective for conclusive diagnosis of CDA Ia.