Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations

Hiromi Ogura, Shouichi Ohga, Takako Aoki, Taiju Utsugisawa, Hidehiro Takahashi, Asayuki Iwai, Kenichiro Watanabe, Yusuke Okuno, Kenichi Yoshida, Seishi Ogawa, Satoru Miyano, Seiji Kojima, Toshiyuki Yamamoto, Keiko Yamamoto-Shimojima, Hitoshi Kanno

Research output: Contribution to journalArticlepeer-review

Abstract

Genetic causes of undiagnosed hemolytic anemia in nineteen patients were analyzed by whole-exome sequencing, and novel COL4A1 variants were identified in four patients (21%). All patients were complicated with congenital malformations of the brain, such as porencephaly or schizencephaly. In these patients, hemolysis became less severe within 2 months after birth, and red cell transfusion was no longer required after 50 days, whereas chronic hemolysis continued.

Original languageEnglish
Article number42
JournalHuman Genome Variation
Volume7
Issue number1
DOIs
Publication statusPublished - Dec 2020

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

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