Abstract:
BACKGROUND:Hereditary spherocytosis (HS) is a common type of hereditary hemolytic anemia. According to the current diagnostic criteria of HS, patients with a family history of HS, typical clinical features and laboratory investigations could be diagnosed without the requirement of any additional tests, including genetic analysis. However, the clinical heterogeneities incur difficulties in HS diagnosis. We therefore aimed to investigate the application of genetic diagnosis in a family-based cohort. CASE PRESENTATION:In the present Chinese family, two probands sharing similar clinical manifestations, including jaundice, cholelithiasis, splenomegaly and spherocytes, while the clinical features of other family members were inconclusive. Whole-exome sequencing (WES) unexpectedly unveiled two separate disease-causing mutations in the two probands. SPTB R1625X mutation detected in proband D was a de novo mutation; while proband W inherited the SLC4A1 c.G1469A mutation from her mother, which was also inherited by her brother. However, the clinical features of proband W and her mother and brother were discrepant: proband W suffered from significant splenomegaly, jaundice and cholelithiasis, which resulted in cholecystectomy and splenectomy; while her mother and brother's HS were not complicated by cholelithiasis, and their splenomegaly and elevated serum bilirubin were moderate. In addition, additional genomic defects involved with HS-related symptoms have not been detected in this family. CONCLUSIONS:Both genotypes and phenotypes could be heterogeneous in the same HS family. The analysis of pathogenic gene mutations may endeavor to play an indispensable role in the accurate diagnosis and genetic consultation of HS individuals and their family members.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Shen H,Huang H,Luo K,Yi Y,Shi Xdoi
10.1186/s12881-019-0826-7subject
Has Abstractpub_date
2019-05-24 00:00:00pages
90issue
1issn
1471-2350pii
10.1186/s12881-019-0826-7journal_volume
20pub_type
杂志文章abstract:BACKGROUND:I/D polymorphisms of ACE are associated with the plasma ACE concentration. The ACE is associated with the angiogenesis of ovarian endothelium in vitro as well as steroidogenesis and follicular growth in cattle. Since ACE induces a high blood supply and hypersteroidogenesis in the ovary, it may be associated ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-64
更新日期:2009-07-14 00:00:00
abstract:BACKGROUND:Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes. CASE PRESENTATION:Here we report a Chinese neonate diagnosed with suspected PA based on the clinical symp...
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pub_type: 杂志文章
doi:10.1186/s12881-020-01102-1
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abstract:BACKGROUND:Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have b...
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abstract:BACKGROUND:Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1) is a urinary macromolecule with a suggested critical role in modulating renal sto...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-020-01101-2
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abstract:BACKGROUND:Acute myeloid leukemia (AML) is a biologically and clinically heterogeneous cancer of the bone marrow that is characterized by the rapid growth of abnormal myeloid cells. METHODS:We performed a mutational analysis to identify AML somatic mutations using the whole-exome sequencing data of 36 tumor-normal sam...
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pub_type: 杂志文章
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更新日期:2017-03-01 00:00:00
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更新日期:2013-08-30 00:00:00
abstract:BACKGROUND:Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identifie...
journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2015-10-13 00:00:00
abstract:BACKGROUND:Insulin secretion is enhanced upon the binding of Glucagon-like peptide-1 (GLP-1) to its receptor (GLP1R) in pancreatic β cells. Although a reduced expression of GLP1R in pancreatic islets from type 2 diabetic patients and hyperglycaemic rats has been established, it is still unknown if this is caused by dif...
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journal_title:BMC medical genetics
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更新日期:2004-12-09 00:00:00
abstract:BACKGROUND:The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer's disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic variants on amyloid β (Aβ) metabolism of AD human is still unclear. Hence, the aim of this study wa...
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pub_type: 杂志文章
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更新日期:2020-09-12 00:00:00
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pub_type: 杂志文章
doi:10.1186/1471-2350-11-4
更新日期:2010-01-12 00:00:00
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journal_title:BMC medical genetics
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更新日期:2009-06-10 00:00:00
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更新日期:2018-07-05 00:00:00
abstract:BACKGROUND:Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infertility. Clinical phenotypes ...
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pub_type: 杂志文章
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更新日期:2020-11-10 00:00:00
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pub_type: 杂志文章
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更新日期:2010-07-09 00:00:00
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pub_type: 杂志文章
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更新日期:2020-10-22 00:00:00
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pub_type: 杂志文章,meta分析
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更新日期:2019-01-17 00:00:00
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pub_type: 杂志文章
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journal_title:BMC medical genetics
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journal_title:BMC medical genetics
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2020-05-24 00:00:00
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