当前位置： SCI文献检索 > BMC Medical Genetics期刊下所有文献 > Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.

Abstract：

BACKGROUND:Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of colorectal cancer. Germline mutations in two genes, SMAD4 and BMPR1A, have been identified to cause JPS. CASE PRESENTATION:Here, we report a germline heterozygous missense variant (c.299G > A) in exon 3 BMPR1A gene in a family with juvenile polyposis. This variant was absent from the population database, and concluded as de novo compared with the parental sequencing. Further sequencing of the proband's children confirmed the segregation of this variant with the disease, while the variant was also predicted to have damaging effect based on online prediction tools. Therefore, this variant was classified as likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. CONCLUSIONS:Germline genetic testing revealed a de novo germline missense variant in BMPR1A gene in a family with juvenile polyposis. Identification of the pathogenic variant facilitates the cancer risk management of at-risk family members, and endoscopic surveillance is recommended for mutation carriers.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Liu Q,Liu M,Liu T,Yu Y

doi

10.1186/s12881-020-01135-6

subject

Has Abstract

pub_date

2020-10-08 00:00:00

pages

196

issue

1

issn

1471-2350

pii

10.1186/s12881-020-01135-6

journal_volume

21

pub_type

杂志文章

相关文献

BMC Medical Genetics文献大全
  • Salivary epigenetic biomarkers as predictors of emerging childhood obesity.

    abstract：BACKGROUND:Epigenetics could facilitate greater understanding of disparities in the emergence of childhood obesity. While blood is a common tissue used in human epigenetic studies, saliva is a promising tissue. Our prior findings in non-obese preschool-aged Hispanic children identified 17 CpG dinucleotides for which di...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-0968-7

    authors： Rushing A,Sommer EC,Zhao S,Po'e EK,Barkin SL

    更新日期：2020-02-14 00:00:00

  • NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.

    abstract：BACKGROUND:Argininosuccinic aciduria (ASAuria; OMIM 207900) is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. We aimed to perform genetic test to the patient and help clinician to diagnose precisely. CASE PRESENTATION:In th...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-016-0273-7

    authors： Wen W,Yin D,Huang F,Guo M,Tian T,Zhu H,Yang Y

    更新日期：2016-02-03 00:00:00

  • Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study.

    abstract：BACKGROUND:Sequence variants in genes functioning in folate-mediated one-carbon metabolism are hypothesized to lead to changes in levels of homocysteine and DNA methylation, which, in turn, are associated with risk of cardiovascular disease. METHODS:330 SNPs in 52 genes were studied in relation to plasma homocysteine ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-12-150

    authors： Wernimont SM,Clark AG,Stover PJ,Wells MT,Litonjua AA,Weiss ST,Gaziano JM,Tucker KL,Baccarelli A,Schwartz J,Bollati V,Cassano PA

    更新日期：2011-11-21 00:00:00

  • The silence of MUC2 mRNA induced by promoter hypermethylation associated with HBV in Hepatocellular Carcinoma.

    abstract：BACKGROUND:To evaluate the promoter methylation status of MUC2 gene and mRNA expression in patients with hepatocellular carcinoma. METHODS:We analyzed MUC2 methylation by MSP, and MUC2 mRNA by real-time PCR in 74 HCC. RESULTS:MUC2 mRNA were lower in HCC tissues (Mean -ΔCt = -4.70) than that in Non-HCC tissues (Mean -...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-14-14

    authors： Ling Y,Zhu J,Gao L,Liu Y,Zhu C,Li R,Wei L,Zhang C

    更新日期：2013-01-25 00:00:00

  • TNFSF15 promoter polymorphisms increase the susceptibility to small cell lung cancer: a case-control study.

    abstract：BACKGROUND:Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility to lung cancer. METHODS:This case-control study included 209 small cell lung cancer patients (S...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-019-0762-6

    authors： Gao H,Niu Z,Zhang Z,Wu H,Xie Y,Yang Z,Li A,Jia Z,Zhang X

    更新日期：2019-02-08 00:00:00

  • CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study.

    abstract：BACKGROUND:L. braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. Wound healing neutrophil (PMN) and macrophage responses made following the bite of the vector sand fly contribute to disease progression in mice. To look at the interplay between PMN and macrophages in disease progression in humans we aske...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-11-10

    authors： Castellucci L,Jamieson SE,Miller EN,Menezes E,Oliveira J,Magalhães A,Guimarães LH,Lessa M,de Jesus AR,Carvalho EM,Blackwell JM

    更新日期：2010-01-20 00:00:00

  • Analysis of KLF transcription factor family gene variants in type 2 diabetes.

    abstract：BACKGROUND:The Krüppel-like factor (KLF) family consists of transcription factors that can activate or repress different genes implicated in processes such as differentiation, development, and cell cycle progression. Moreover, several of these proteins have been implicated in glucose homeostasis, making them candidate ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-8-53

    authors： Gutiérrez-Aguilar R,Benmezroua Y,Vaillant E,Balkau B,Marre M,Charpentier G,Sladek R,Froguel P,Neve B

    更新日期：2007-08-09 00:00:00

  • A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk.

    abstract：BACKGROUND:Mitotic recombination is important for inactivating tumour suppressor genes by copy-neutral loss of heterozygosity (LOH). Although meiotic recombination maps are plentiful, little is known about mitotic recombination. The APC gene (chr5q21) is mutated in most colorectal tumours and its usual mode of LOH is m...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-10-54

    authors： Howarth K,Ranta S,Winter E,Teixeira A,Schaschl H,Harvey JJ,Rowan A,Jones A,Spain S,Clark S,Guenther T,Stewart A,Silver A,Tomlinson I

    更新日期：2009-06-10 00:00:00

  • X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.

    abstract：BACKGROUND:Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported. CASE PRESENTATION:A 27-year-old man presented with CN and congenital cataracts and he underwent cat...

    journal_title：BMC medical genetics

    pub_type： 杂志文章,评审

    doi：10.1186/s12881-019-0780-4

    authors： Yan N,Xiao L,Hou C,Guo B,Fan W,Deng Y,Ma K

    更新日期：2019-03-19 00:00:00

  • No association of CDK5 genetic variants with Alzheimer's disease risk.

    abstract：BACKGROUND:As cyclin-dependent kinase 5 (CDK5) has been implicated in the abnormal hyperphosphorylation of tau in Alzheimer's disease (AD) brain, and the development of neurofibrillary tangles, we examined the contribution of this gene to the susceptibility for AD. METHODS:We examined genetic variations of CDK5 by gen...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-10-68

    authors： Vázquez-Higuera JL,Mateo I,Sánchez-Juan P,Rodríguez-Rodríguez E,Infante J,Berciano J,Combarros O

    更新日期：2009-07-17 00:00:00

  • Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.

    abstract：BACKGROUND:Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent associat...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-016-0278-2

    authors： Balendra R,Uphill J,Collinson C,Druyeh R,Adamson G,Hummerich H,Zerr I,Gambetti P,Collinge J,Mead S

    更新日期：2016-04-07 00:00:00

  • Health status in patients at risk of inherited arrhythmias and sudden unexpected death compared to the general population.

    abstract：BACKGROUND:The possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care offer in genetic counselling of inherited arrhythmias, potentially affecting the subjective health amo...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-11-27

    authors： Hamang A,Eide GE,Nordin K,Rokne B,Bjorvatn C,Øyen N

    更新日期：2010-02-17 00:00:00

  • A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.

    abstract：BACKGROUND:Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and composition. It appears both in syndromic as well as non-syndromic forms. In the affected individual...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01038-6

    authors： Khan SA,Khan MA,Muhammad N,Bashir H,Khan N,Muhammad N,Yilmaz R,Khan S,Wasif N

    更新日期：2020-05-07 00:00:00

  • Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.

    abstract：BACKGROUND:The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood. METHODS:To determine the frequency of TMEM43 mutations as a cause of ARVC, we scree...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-13-21

    authors： Rajkumar R,Sembrat JC,McDonough B,Seidman CE,Ahmad F

    更新日期：2012-03-29 00:00:00

  • Multiplex pyrosequencing assay using AdvISER-MH-PYRO algorithm: a case for rapid and cost-effective genotyping analysis of prostate cancer risk-associated SNPs.

    abstract：BACKGROUND:Single Nucleotide Polymorphisms (SNPs) identified in Genome Wide Association Studies (GWAS) have generally moderate association with related complex diseases. Accordingly, Multilocus Genetic Risk Scores (MGRSs) have been computed in previous studies in order to assess the cumulative association of multiple S...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-015-0186-x

    authors： Ambroise J,Butoescu V,Robert A,Tombal B,Gala JL

    更新日期：2015-06-25 00:00:00

  • Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.

    abstract：BACKGROUND:Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAMTSL4, FBN1, LTBP2, ADAMTSL-10...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-018-0590-0

    authors： Alías L,Crespi J,González-Quereda L,Téllez J,Martínez E,Bernal S,Gallano MP

    更新日期：2018-05-11 00:00:00

  • A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture.

    abstract：BACKGROUND:The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. Genetic variation within the CYP19A1 gene sequence has been shown to alter the function of the enzyme. The aim of this study is to investigate whether a non-synonymous Arg264Cy...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-12-165

    authors： Wang JZ,Deogan MS,Lewis JR,Chew S,Mullin BH,McNab TJ,Wilson SG,Ingley E,Prince RL

    更新日期：2011-12-20 00:00:00

  • Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.

    abstract：BACKGROUND:Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital contractures and bone fragility. This raised the question if the patients ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-12-152

    authors： Steinlein OK,Aichinger E,Trucks H,Sander T

    更新日期：2011-11-22 00:00:00

  • Family-based associations in measures of psychological distress and quality of life in a cardiac screening clinic for inheritable cardiac diseases: a cross-sectional study.

    abstract：BACKGROUND:Family-based cardiac screening programmes for persons at risk for genetic cardiac diseases are now recommended. However, the psychological wellbeing and health related quality of life (QoL) of such screened patients is poorly understood, especially in younger patients. We sought to examine wellbeing and QoL ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-14-1

    authors： McGorrian C,McShane C,McQuade C,Keelan T,Neill JO,Galvin J,Malone K,Mahon NG,Codd M

    更新日期：2013-01-08 00:00:00

  • Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.

    abstract：BACKGROUND:Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity. Establishing genetic pathogenicity is an essential prerequisite to family cascade screening. Many ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-015-0176-z

    authors： Leong IU,Stuckey A,Lai D,Skinner JR,Love DR

    更新日期：2015-05-13 00:00:00

  • First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.

    abstract：BACKGROUND:Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondria...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01162-3

    authors： Zhang C,Deng X,Wen Y,He F,Yin F,Peng J

    更新日期：2020-11-26 00:00:00

  • Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

    abstract：BACKGROUND:Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and mol...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-018-0548-2

    authors： López M,García-Oguiza A,Armstrong J,García-Cobaleda I,García-Miñaur S,Santos-Simarro F,Seidel V,Domínguez-Garrido E

    更新日期：2018-03-05 00:00:00

  • The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

    abstract：BACKGROUND:In X-linked dilated cardiomyopathy due to dystrophin mutations which abolish the expression of the M isoform (5'-XLDC), the skeletal muscle is spared through the up-regulation of the Brain (B) isoform, a compensatory mechanism that does not appear to occur in the heart of affected individuals. METHODS:We qu...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-13-20

    authors： Neri M,Valli E,Alfano G,Bovolenta M,Spitali P,Rapezzi C,Muntoni F,Banfi S,Perini G,Gualandi F,Ferlini A

    更新日期：2012-03-28 00:00:00

  • Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease.

    abstract：BACKGROUND:The platelet P2Y12 receptor plays a key role in platelet activation. The H2 haplotype of the P2Y12 receptor gene (P2RY12) has been found to be associated with maximal aggregation response to adenosine diphosphate (ADP) and with increased risk for peripheral arterial disease. No data are available on its asso...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-8-59

    authors： Cavallari U,Trabetti E,Malerba G,Biscuola M,Girelli D,Olivieri O,Martinelli N,Angiolillo DJ,Corrocher R,Pignatti PF

    更新日期：2007-09-05 00:00:00

  • A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.

    abstract：BACKGROUND:A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affec...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-15-25

    authors： Mir H,Raza SI,Touseef M,Memon MM,Khan MN,Jaffar S,Ahmad W

    更新日期：2014-02-26 00:00:00

  • Genes involved in muscle contractility and nutrient signaling pathways within celiac disease risk loci show differential mRNA expression.

    abstract：BACKGROUND:Risk gene variants for celiac disease, identified in genome-wide linkage and association studies, might influence molecular pathways important for disease development. The aim was to examine expression levels of potential risk genes close to these variants in the small intestine and peripheral blood and also...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-015-0190-1

    authors： Montén C,Gudjonsdottir AH,Browaldh L,Arnell H,Nilsson S,Agardh D,Naluai ÅT

    更新日期：2015-06-30 00:00:00

  • A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma - a case report.

    abstract：BACKGROUND:Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mut...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01129-4

    authors： Radman M,Milicevic T

    更新日期：2020-09-29 00:00:00

  • Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.

    abstract：BACKGROUND:Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. CASE PRESENTATION:The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous family (3.59 kg, 70th percentile). Severe cardiac malformations were d...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01012-2

    authors： Sanchez-Lechuga B,Saqlain M,Ng N,Colclough K,Woods C,Byrne M

    更新日期：2020-04-03 00:00:00

  • A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.

    abstract：BACKGROUND:N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10 germline variants were found...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-019-0803-1

    authors： Ree R,Geithus AS,Tørring PM,Sørensen KP,Damkjær M,DDD study.,Lynch SA,Arnesen T

    更新日期：2019-06-07 00:00:00

  • EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

    abstract：BACKGROUND:Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. CASE ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-015-0165-2

    authors： Li C,Chen R,Fan X,Luo J,Qian J,Wang J,Xie B,Shen Y,Chen S

    更新日期：2015-04-11 00:00:00