A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis
Copyright © 2021 by the Association of Clinical Scientists, Inc..
Hereditary spherocytosis (HS) is a congenital disorder of the red blood cell membrane and is characterized by hemolytic anemia, variable jaundice, and splenomegaly. In neonates, the diagnosis of HS can be difficult in the absence of family history. Herein, we describe clinical and molecular genetic findings in a Korean neonate with HS. A one-month-old girl presented with severe anemia and jaundice. Spherocytes were frequently observed on peripheral blood smear, but the erythrocyte osmotic fragility test result was normal. Targeted next-generation sequencing (NGS) revealed the patient was heterozygous for a novel frameshift mutation, c.191_194del (p.Leu64Argfs*7), in exon 3 of ANK1 gene. Family study was performed by direct sequencing, and neither of her parents carried this mutation. The patient also harbored the UGT1A1*6 allele. To the best of our knowledge, this ANK1 mutation identified by targeted NGS has not been reported previously.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:51 |
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| Enthalten in: |
Annals of clinical and laboratory science - 51(2021), 1 vom: 01. Jan., Seite 136-139 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Jang, Woori [VerfasserIn] |
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| Themen: |
ANK1 |
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| Anmerkungen: |
Date Completed 29.06.2021 Date Revised 29.06.2021 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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NLM322113032 |
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| 245 | 1 | 2 | |a A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis |
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| 520 | |a Copyright © 2021 by the Association of Clinical Scientists, Inc. | ||
| 520 | |a Hereditary spherocytosis (HS) is a congenital disorder of the red blood cell membrane and is characterized by hemolytic anemia, variable jaundice, and splenomegaly. In neonates, the diagnosis of HS can be difficult in the absence of family history. Herein, we describe clinical and molecular genetic findings in a Korean neonate with HS. A one-month-old girl presented with severe anemia and jaundice. Spherocytes were frequently observed on peripheral blood smear, but the erythrocyte osmotic fragility test result was normal. Targeted next-generation sequencing (NGS) revealed the patient was heterozygous for a novel frameshift mutation, c.191_194del (p.Leu64Argfs*7), in exon 3 of ANK1 gene. Family study was performed by direct sequencing, and neither of her parents carried this mutation. The patient also harbored the UGT1A1*6 allele. To the best of our knowledge, this ANK1 mutation identified by targeted NGS has not been reported previously | ||
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| 700 | 1 | |a Choi, Jong Weon |e verfasserin |4 aut | |
| 700 | 1 | |a Kim, Jin Ju |e verfasserin |4 aut | |
| 700 | 1 | |a Moon, Yeonsook |e verfasserin |4 aut | |
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