A previously unrecognized Ankyrin‐1 Ankyrin‐1 mutation associated with Hereditary Spherocytosis in an Italian family

Lazzareschi Ilaria; Curatola Antonietta; Pedicelli Cristina; Castiglia Daniele; Buonsenso Danilo; Gatto Antonio; Attinà Giorgio; Valentini Piero

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A previously unrecognized Ankyrin‐1 Ankyrin‐1 mutation associated with Hereditary Spherocytosis in an Italian family

机译：以前未被识别的肛门蛋白-1突变-1突变与意大利家庭中的遗传球致症相关

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Abstract Hereditary spherocytosis is the most common inherited hemolytic anemia characterized by the presence of spherical‐shaped erythrocytes on peripheral blood smear. The clinical manifestations of HS are highly variable, from severe forms to asymptomatic forms. HS is caused by defects in red blood cell membrane proteins, encoded by the ANK1, EPB42, SLC4A1, SPTA1 and SPTB genes. Mutation of the ANK 1 gene is the most common and inheritance is autosomal dominant in 75% of cases. In our case, heterozygous an ANK1 c.4123C??T mutation was identified in a 4‐year‐old girl, using targeted next‐generation sequencing and Sanger sequencing.

机译：摘要遗传性球致症是最常见的遗传性溶血性贫血，其特征在于外周血涂片上的球形红细胞存在。 HS的临床表现是高度可变的，从严重形式到无症状形式。 HS是由红细胞膜蛋白的缺陷引起的，由ANK1，EPB42，SLC4A1，SPTA1和SPTB基因编码。 ANK 1基因的突变是最常见的并且遗传是在75％的病例中的常染色体显性。在我们的情况下，杂合子ANK1 C.4123C？＆Δt突变在一个4岁的女孩中鉴定使用靶向的下一代测序和Sanger测序。

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来源
《European Journal of Haematology》 |2019年第5期|共4页
作者
Lazzareschi Ilaria; Curatola Antonietta; Pedicelli Cristina; Castiglia Daniele; Buonsenso Danilo; Gatto Antonio; Attinà Giorgio; Valentini Piero;
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作者单位

Department of Woman and Child Health and Public HealthFondazione Policlinico Universitario A;

Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A;

1st Dermatology DivisionIDI‐IRCCSRome Italy;

Laboratory of Molecular and Cell BiologyIDI‐IRCCSRome Italy;

Department of Woman and Child Health and Public HealthFondazione Policlinico Universitario A;

Department of Woman and Child Health and Public HealthFondazione Policlinico Universitario A;

Paediatric Oncology UnitFondazione Policlinico Universitario A. Gemelli IRCCSRome Italy;

Department of Woman and Child Health and Public HealthFondazione Policlinico Universitario A;

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正文语种 eng
中图分类血液及淋巴系疾病;
关键词
molecular cytogenetics; pediatric hematology; red cell disorders;

机译：分子细胞遗传学;儿科血液学;红细胞障碍;

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专利

1. A previously unrecognized Ankyrin‐1 Ankyrin‐1 mutation associated with Hereditary Spherocytosis in an Italian family [J] . Lazzareschi Ilaria, Curatola Antonietta, Pedicelli Cristina, European Journal of Haematology . 2019,第5期

机译：以前未被识别的肛门蛋白-1突变-1突变与意大利家庭中的遗传球致症相关
2. Apparently normal ankyrin content in unsplenectomized hereditary spherocytosis patients with the inactivation of one ankyrin (ANK1) allele | Haematologica [J] . E Miraglia del Giudice, M Francese, R Polito, Haematologica . 1997,第3期

机译：未切除脾的遗传性球囊增多症患者中一种正常的锚蛋白含量正常，其中一种锚蛋白（ANK1）等位基因失活血液学
3. Ankyrin Mutations in Hereditary Spherocytosis [J] . Agarwal Archana M. Acta Haematologica . 2019,第2期

机译：遗传性球形致症中的Ankyrin突变
4. A prediction system for ankyrin repeat domain family [C] . Teng-Wei Wang, Ying-Tsang Lo, Tun-Wen Pai, International Conference on System Science and Engineering . 2015

机译：Ankyrin重复域系列的预测系统
5. Defining ankyrin-B syndrome: Characterization of ankyrin-B variants in mice and men and the discovery of a role for ankyrin-B in parasympathetic control of insulin release [D] . Healy, Jane A. 2009

机译：定义锚蛋白-B综合征：小鼠和男性中锚蛋白-B变体的表征，以及发现锚蛋白-B在副交感神经控制胰岛素释放中的作用
6. A nonsense mutation 1669Glu--Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. [O] . P Jarolim, H L Rubin, V Brabec, 1995

机译：人红系锚蛋白的调节域内的无意义突变1669Glu- Ter导致主要锚蛋白同工型（带2.1）的选择性缺陷和常染色体显性遗传性球囊细胞增多症的表型。
7. PARENTAL MOSAICISM FOR ANKYRIN-1 MUTATIONS IN TWO FAMILIES WITH HEREDITARY SPHEROCYTOSIS (HS) [O] . S Eber, R Öczan, W Kugler, 1999

机译：两家家庭遗传球致胞症（HS）的父母马赛族

A previously unrecognized Ankyrin‐1 Ankyrin‐1 mutation associated with Hereditary Spherocytosis in an Italian family

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