在患有先天性溶血性贫血并伴有脑畸形的婴儿中发现的新型COL4A1突变。
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.
作者信息
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
机构信息
Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
出版信息
Hum Genome Var. 2020 Nov 27;7(1):42. doi: 10.1038/s41439-020-00130-w.
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.
通过全外显子组测序分析了19例未确诊溶血性贫血患者的遗传病因，在4例患者（21%）中鉴定出了新的COL4A1变异。所有患者均合并脑先天性畸形，如脑穿通畸形或脑裂畸形。在这些患者中，出生后2个月内溶血症状减轻，50天后不再需要红细胞输血，但慢性溶血仍持续存在。
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