A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family

Xu, Lvjie; Wei, Xiaofeng; Liang, Guanxia; Zhu, Dina; Zhang, Yanxia; Zhang, Yang; Shang, Xuan

doi:10.1016/j.bbadis.2022.166595

Cited by 4 publications

(3 citation statements)

References 28 publications

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“…After reviewing all available published reports of Chinese HS patients carrying ANK1 mutations, a total of 129 reported and 15 unreported ANK1 variants were further summarized, including missense ( n = 19), frameshift ( n = 40), non-sense ( n = 46), and splicing ( n = 21) variants ( Supplementary Table S3 ) ( Huang et al, 2019 ; Bin et al, 2020 ; Chai et al, 2020 ; Wang et al, 2020 ; Zhu et al, 2020 ; Wang et al, 2021a ; Wu et al, 2021a ; Xie et al, 2021a ; Wang et al, 2021b ; Xie et al, 2021b ; Wang et al, 2021c ; Fu et al, 2022 ; Li et al, 2022 ; Xiang and Shen, 2022 ; Zhao et al, 2022 ; Xu et al, 2023 ; Zhu et al, 2023 ). When we extended the Hb and T-Bil data to all 144 probands, the difference in Hb between regulatory domains and membrane binding domains disappeared ( Figure 5C ).…”

Section: Resultsmentioning

confidence: 99%

Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis

Kang

Zhu

et al. 2023

Front. Genet.

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Background: Hereditary spherocytosis (HS) is an autosomal dominant (AD) and autosomal recessive (AR) disorder that is mostly caused by mutations of the erythrocyte membrane-related gene ANK1.Methods: Clinical and genetic testing data of 17 HS children with ANK1 gene mutations were retrospectively collected. Clinical manifestations and phenotypic analysis of HS were summarized based on our experience and literature review.Results: A total of 17 mutations of the ANK1 gene were identified from 17 probands (12 sporadic cases and five familial cases), including 15 novel mutations and two previously reported ones. Among the 15 novel variants of ANK1, there were four non-sense mutations, four frameshift mutations, three splicing mutations, three missense mutations and one in-frame deletion of three amino acids. In the present study, HS patients with mutations in membrane binding domains had significantly lower hemoglobin (Hb) levels and higher total bilirubin (T-Bil) levels than those with mutations in regulatory domains. After reviewing and analyzing all available published reports of Chinese HS patients carrying ANK1 mutations in PubMed and Chinese journals, there were no significant differences in Hb, Ret and T-Bil between different mutation types or mutation regions.Conclusion: Mutations of the ANK1 can be inherited or de novo. Clinical manifestations of HS in children caused by ANK1 mutations are similar to those of other types of hemolytic anemia. Our report expands the mutation spectrum of HS, thus providing references for clinical management and genetic counseling of HS.

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Section: Resultsmentioning

confidence: 99%

Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis

Kang

Zhu

et al. 2023

Front. Genet.

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“…Some studies suggest that this may be related to age and race, whereas others suggest that it may be related to the expression of mutant gene alleles. That is, low allele expression may lead to mild clinical manifestations in patients[ 25 ].…”

Section: Discussionmentioning

confidence: 99%

Complex heterozygous mutations in hereditary spherocytosis: A case report

He,

Lv,

Wei

et al. 2024

World J Clin Cases

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BACKGROUND The aim of this study was to investigate the complex heterozygous mutations of ANK1 and SPTA1 in the same individual and improve our understanding of hereditary spherocytosis (HS) in children. We also hope to promote the application of gene detection technology in children with HS, with the goals of identifying more related gene mutations, supporting the acquisition of improved molecular genetic information to further reveal the pathogenesis of HS in children, and providing important guidance for the diagnosis, treatment, and prevention of HS in children. CASE SUMMARY A 1-year and 5-month-old patient presented jaundice during the neonatal period, mild anemia 8 months later, splenic enlargement at 1 year and 5 months, and brittle red blood cell permeability. Genetic testing was performed on the patient, their parents, and sister. Swiss Model software was used to predict the protein structure of complex heterozygous mutations in ANK1 and SPTA1 . Genetic testing revealed that the patient harbored a new mutation in the ANK1 gene from the father and a mutation in the SPTA1 gene from the mother. Combined with the clinical symptoms of the children, it is suggested that the newly discovered complex heterozygous mutations of ANK1 and SPTA1 may be the cause, providing important guidance for revealing the pathogenesis, diagnosis, treatment, and promotion of gene detection technology in children with HS. CONCLUSION This case involves an unreported complex heterozygous mutation of ANK1 and SPTA1 , which provides a reference for exploring HS.

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“…The MCH is categorized as anemia either to iron deficiency or underlying thalassemia [12]. However, based on the MCHC parameter, anemia is classified into hypochromic or spherocytosis types [13].…”

Section: Introductionmentioning

confidence: 99%

Clinical Study On the Impact of Amino Acids, Multi-Minerals, and Vitamins Combination Against Small Ruminants With Anemia In New Valley Governorate

Galbat,

Elnaker,

Ibrahim

et al. 2023

New Valley Veterinary Journal

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Anemia syndrome is defined as a reduction in erythrocyte mass, hematocrit, and hemoglobin (Hb) concentration and sometimes leads to tissue hypoxia. Domesticated sheep and goats are essential to food security and the national economy. The present study aimed to determine the clinical impact of anemia in sheep and goats from different localities in the New Valley governorate. 150 sheep and 360 goats were clinically examined. Blood and fecal samples were collected from multiple locations. Hematological variables, serum iron (Fe +2 ), copper (Cu +2 ), and vitamin B 12 concentrations were estimated. Moreover, blood film and fecal examination were analyzed. Furthermore, the effect of amino acids, multi-minerals, and vitamins combination (AMVC) administration was studied on clinically anemic sheep and goats. The results revealed significant improvement in Hb, red blood cells count, mean corpuscular volume, and mean corpuscular Hb in anemic sheep and goats administrated AMVC compared to anemic ones. Moreover, serum Fe +2 , Cu +2 , and vitamin B 12 levels were elevated. The current research found that anemic syndrome had significant detrimental effects on the health of sheep and goats in the New Valley governorate; however, using multivitamins, minerals, and essential amino acids in the ration can restore these effects.

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A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family

Cited by 4 publications

References 28 publications

Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis

Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis

Complex heterozygous mutations in hereditary spherocytosis: A case report

Clinical Study On the Impact of Amino Acids, Multi-Minerals, and Vitamins Combination Against Small Ruminants With Anemia In New Valley Governorate

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