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

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 pa...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695726/
https://www.ncbi.nlm.nih.gov/pubmed/33298904
http://dx.doi.org/10.1038/s41439-020-00130-w
Descripción
Sumario: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.

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