Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
27 Nov 2020
27 Nov 2020
Historique:
received:
31
07
2020
accepted:
28
10
2020
entrez:
10
12
2020
pubmed:
11
12
2020
medline:
11
12
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33298904
doi: 10.1038/s41439-020-00130-w
pii: 10.1038/s41439-020-00130-w
pmc: PMC7695726
doi:
Types de publication
Journal Article
Langues
eng
Pagination
42Subventions
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP19cm0106501
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP 19ek0109286h0003
Organisme : Ministry of Education, Culture, Sports, Science and Technology (MEXT)
ID : hp170227
Organisme : Ministry of Education, Culture, Sports, Science and Technology (MEXT)
ID : hp180198
Organisme : Ministry of Education, Culture, Sports, Science and Technology (MEXT)
ID : hp190158
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : JP16K10041
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