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

doi:10.1038/s41439-020-00130-w

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

Reproductive and Developmental Medicine

Research output: Contribution to journal › Article › peer-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 language	English
Article number	42
Journal	Human Genome Variation
Volume	7
Issue number	1
DOIs	https://doi.org/10.1038/s41439-020-00130-w
Publication status	Published - Dec 2020

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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Ogura, H., Ohga, S., Aoki, T., Utsugisawa, T., Takahashi, H., Iwai, A., Watanabe, K., Okuno, Y., Yoshida, K., Ogawa, S., Miyano, S., Kojima, S., Yamamoto, T., Yamamoto-Shimojima, K., & Kanno, H. (2020). Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations. Human Genome Variation, 7(1), [42]. https://doi.org/10.1038/s41439-020-00130-w

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations. / Ogura, Hiromi; Ohga, Shouichi; Aoki, Takako; Utsugisawa, Taiju; Takahashi, Hidehiro; Iwai, Asayuki; Watanabe, Kenichiro; Okuno, Yusuke; Yoshida, Kenichi; Ogawa, Seishi; Miyano, Satoru; Kojima, Seiji; Yamamoto, Toshiyuki; Yamamoto-Shimojima, Keiko; Kanno, Hitoshi.

In: Human Genome Variation, Vol. 7, No. 1, 42, 12.2020.

Research output: Contribution to journal › Article › peer-review

Ogura, H, Ohga, S, Aoki, T, Utsugisawa, T, Takahashi, H, Iwai, A, Watanabe, K, Okuno, Y, Yoshida, K, Ogawa, S, Miyano, S, Kojima, S, Yamamoto, T, Yamamoto-Shimojima, K & Kanno, H 2020, 'Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations', Human Genome Variation, vol. 7, no. 1, 42. https://doi.org/10.1038/s41439-020-00130-w

Ogura, Hiromi ; Ohga, Shouichi ; Aoki, Takako ; Utsugisawa, Taiju ; Takahashi, Hidehiro ; Iwai, Asayuki ; Watanabe, Kenichiro ; Okuno, Yusuke ; Yoshida, Kenichi ; Ogawa, Seishi ; Miyano, Satoru ; Kojima, Seiji ; Yamamoto, Toshiyuki ; Yamamoto-Shimojima, Keiko ; Kanno, Hitoshi. / Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations. In: Human Genome Variation. 2020 ; Vol. 7, No. 1.

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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.",

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

note = "Funding Information: We would like to express our gratitude to the patients and their parents for their cooperation. This work was supported by the Japan Agency for Medical Research and Development (AMED); the Project for Development of Innovative Research on Cancer Therapeutics (JP19cm0106501 to S.O.) and the Practical Research Project for Rare/Intractable Diseases (JP 19ek0109286h0003 to S.O.); the Ministry of Education, Culture, Sports, Science and Technology of Japan; the High Performance Computing Infrastructure System Research Project (hp160219, hp170227, hp180198, and hp190158 to S.O.) (this research used computational resources of the K computer provided by the RIKEN Advanced Institute for Computational Science through the HPCI System Research project); and JSPS KAKENHI (JP16K10041 to H.K.).",

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