当前位置： SCI文献检索 > BMC Medical Genetics期刊下所有文献 > The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

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 been associated with cases of HFS. Variable severity of the disorder in different patients has been proposed to be related to the specific mutations in these patients and their location within the gene. CASE PRESENTATION:In this report, we describe four cases of HFS from consanguineous backgrounds. Genetic analysis identified a novel homozygous frameshift deletion c.969del (p.Ile323Metfs*14) in one case, the previously reported mutation c.134 T > C (p.Leu45Pro) in another case, and the recurrent homozygous frameshift mutation c.1073dup (p.Ala359Cysfs*13) in two cases. The epidemiology of this latter mutation is of particular interest, as it is a candidate for inhibition of nonsense-mediated mRNA decay. Haplotype analysis was performed to determine the origin of this mutation in this consanguineous cohort, which suggested that it may develop sporadically in different populations. CONCLUSIONS:This information provides insights on genotype-phenotype correlations, identifies a previously unreported mutation in ANTXR2, and improves the understanding of a recurrent mutation in HFS.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Youssefian L,Vahidnezhad H,Touati A,Ziaee V,Saeidian AH,Pajouhanfar S,Zeinali S,Uitto J

doi

10.1186/s12881-018-0581-1

subject

Has Abstract

pub_date

2018-05-25 00:00:00

pages

87

issue

1

issn

1471-2350

pii

10.1186/s12881-018-0581-1

journal_volume

19

pub_type

杂志文章

相关文献

BMC Medical Genetics文献大全
  • Common polymorphisms within the NR4A3 locus, encoding the orphan nuclear receptor Nor-1, are associated with enhanced beta-cell function in non-diabetic subjects.

    abstract：BACKGROUND:Neuron-derived orphan receptor (Nor) 1, nuclear receptor (Nur) 77, and nuclear receptor-related protein (Nurr) 1 constitute the NR4A family of orphan nuclear receptors which were recently found to modulate hepatic glucose production, insulin signalling in adipocytes, and oxidative metabolism in skeletal musc...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-10-77

    authors： Weyrich P,Staiger H,Stancáková A,Schäfer SA,Kirchhoff K,Ullrich S,Ranta F,Gallwitz B,Stefan N,Machicao F,Kuusisto J,Laakso M,Fritsche A,Häring HU

    更新日期：2009-08-14 00:00:00

  • Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas.

    abstract：BACKGROUND:Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far. METHODS:Literature-based data mining was conducted to identify genes, molecule, and cell processes linked to both hyperkalemia and ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01099-7

    authors： Meng X,Lu H,Jiang X,Huang B,Wu S,Yu G,Cao H

    更新日期：2020-10-22 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

  • Identification of a pleiotropic locus on chromosome 7q for a composite left ventricular wall thickness factor and body mass index: the HyperGEN Study.

    abstract：BACKGROUND:Left ventricular (LV) mass and wall thickness are closely associated with measures of body size and blood pressure and also correlated with systolic and diastolic function, suggesting a contribution of common physiologic mechanisms, including pleiotropic genes, to their covariation. METHODS:Doppler echocard...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-10-40

    authors： Tang W,Devereux RB,Li N,Oberman A,Kitzman DW,Rao DC,Hopkins PN,Claas SA,Arnett DK

    更新日期：2009-05-09 00:00:00

  • FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.

    abstract：BACKGROUND:FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we ha...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-018-0524-x

    authors： Nguyen-Dumont T,Myszka A,Karpinski P,Sasiadek MM,Akopyan H,Hammet F,Tsimiklis H,Park DJ,Pope BJ,Slezak R,Kitsera N,Siekierzynska A,Southey MC

    更新日期：2018-01-19 00:00:00

  • Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

    abstract：BACKGROUND:Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is charact...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-13-98

    authors： Mußotter T,Kluwe L,Högel J,Nguyen R,Cooper DN,Mautner VF,Kehrer-Sawatzki H

    更新日期：2012-10-26 00:00:00

  • Associations between variants on ADIPOQ and ADIPOR1 with colorectal cancer risk: a Chinese case-control study and updated meta-analysis.

    abstract：BACKGROUND:Epidemiological studies have suggested that variants on adiponectin (ADIPOQ) and its receptor ADIPOR1 (adiponectin receptor 1) are associated with colorectal cancer (CRC) risk; however, the results were inconclusive. The aim of the study was to evaluate the associations between the variants on ADIPOQ and ADI...

    journal_title：BMC medical genetics

    pub_type： 杂志文章,meta分析

    doi：10.1186/s12881-014-0137-y

    authors： Ou Y,Chen P,Zhou Z,Li C,Liu J,Tajima K,Guo J,Cao J,Wang H

    更新日期：2014-12-17 00:00:00

  • Voltage-dependent anion channel (VDAC) is involved in apoptosis of cell lines carrying the mitochondrial DNA mutation.

    abstract：BACKGROUND:The mitochondrial voltage-dependent anion channel (VDAC) is increasingly implicated in the control of apoptosis. We have studied the effects the mitochondrial DNA (mtDNA) tRNAIle mutation on VDAC expression, localization, and apoptosis. METHODS:Lymphoblastoid cell lines were derived from 3 symptomatic and 1...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-10-114

    authors： Yuqi L,Lei G,Yang L,Zongbin L,Hua X,Lin W,Rui C,Mohan L,Yi W,Minxin G,Shiwen W

    更新日期：2009-11-09 00:00:00

  • A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis.

    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

    doi：10.1186/s12881-015-0241-7

    authors： Dello Russo P,Franzoni A,Baldan F,Puppin C,De Maglio G,Pittini C,Cattarossi L,Pizzolitto S,Damante G

    更新日期：2015-10-13 00:00:00

  • Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

    abstract：BACKGROUND:KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS). METHODS:Here, we report a new case of TMBTS diagnosed in a L...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-016-0304-4

    authors： Mégarbané A,Al-Ali R,Choucair N,Lek M,Wang E,Ladjimi M,Rose CM,Hobeika R,Macary Y,Temanni R,Jithesh PV,Chouchane A,Sastry KS,Thomas R,Tomei S,Liu W,Marincola FM,MacArthur D,Chouchane L

    更新日期：2016-06-10 00:00:00

  • Genetic risk-factors for anxiety in healthy individuals: polymorphisms in genes important for the HPA axis.

    abstract：BACKGROUND:Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety, the aim of this exploratory study was to investigate possible relationships between genetic polymo...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01123-w

    authors： Lindholm H,Morrison I,Krettek A,Malm D,Novembre G,Handlin L

    更新日期：2020-09-21 00:00:00

  • Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

    abstract：BACKGROUND:Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter. METHODS:The proband had prim...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-017-0445-0

    authors： Guarnieri V,Seaberg RM,Kelly C,Jean Davidson M,Raphael S,Shuen AY,Baorda F,Palumbo O,Scillitani A,Hendy GN,Cole DEC

    更新日期：2017-08-03 00:00:00

  • Relationship between TGF-β1 + 869 T/C and + 915 G/C gene polymorphism and risk of acute rejection in renal transplantation recipients.

    abstract：BACKGROUND:This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF-β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute rejection in the recipients with renal transplantation. METHODS:Relevant studies were searched and iden...

    journal_title：BMC medical genetics

    pub_type： 杂志文章,meta分析,评审

    doi：10.1186/s12881-019-0847-2

    authors： Li HY,Zhou T,Lin S,Lin W

    更新日期：2019-06-25 00:00:00

  • Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.

    abstract：BACKGROUND:Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. CASE PRESENTATION:A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章,评审

    doi：10.1186/1471-2350-7-2

    authors： Brooks BP,Meck JM,Haddad BR,Bendavid C,Blain D,Toretsky JA

    更新日期：2006-01-13 00:00:00

  • Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.

    abstract：BACKGROUND:Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normall...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-017-0400-0

    authors： Tang F,Ma D,Wang Y,Qiu Y,Liu F,Wang Q,Lu Q,Shi M,Xu L,Liu M,Liang J

    更新日期：2017-03-23 00:00:00

  • Massive obesity and hyperphagia in posterior bilateral periventricular heterotopias: case report.

    abstract：BACKGROUND:Bilateral posterior periventricular nodular heterotopia PNH is a complex malformation of cortical development with imaging features distinguishing it from classic bilateral PNH associated with filamin (FLNA) mutations. It distinctively consists of variably sized nodules of neurons along the trigones and temp...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-016-0282-6

    authors： Guglielmi V,Floris R,D'Adamo M,Garaci F,Novelli G,Sbraccia P

    更新日期：2016-03-09 00:00:00

  • Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia.

    abstract：BACKGROUND:Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor (RyR2) gene. We sought to identify mutations in genes affecting cardiac calcium cycling in patients with CPVT and in less typical familial exercise-r...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-10-12

    authors： Marjamaa A,Laitinen-Forsblom P,Lahtinen AM,Viitasalo M,Toivonen L,Kontula K,Swan H

    更新日期：2009-02-12 00:00:00

  • MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

    abstract：BACKGROUND:Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or nonsyndromic hearing loss in families presenting with extremely variable clinical phenotypes. Bio...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-8-81

    authors： Ballana E,Mercader JM,Fischel-Ghodsian N,Estivill X

    更新日期：2007-12-21 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

  • Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report.

    abstract：BACKGROUND:Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia precipitating neurodegeneration without any immediate causal events has...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-018-0663-0

    authors： Cho KH,Shim SH,Jung Y,Sung SR,Kim M

    更新日期：2018-08-29 00:00:00

  • Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.

    abstract：BACKGROUND:Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our findings in two Chinese families: Family 1 with DA2B (MIM 601680) and Family 2 with mild DA. METHOD...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-018-0692-8

    authors： Li S,You Y,Gao J,Mao B,Cao Y,Zhao X,Zhang X

    更新日期：2018-10-03 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

  • Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort.

    abstract：BACKGROUND:In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD). Early detection of G2019S by fast genetic testing is very important to guide PD's diagnosis and support patients...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-017-0432-5

    authors： Landoulsi Z,Benromdhan S,Ben Djebara M,Damak M,Dallali H,Kefi R,Abdelhak S,Gargouri-Berrechid A,Mhiri C,Gouider R

    更新日期：2017-07-06 00:00:00

  • Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases.

    abstract：BACKGROUND:Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided into neuropathic and non-neuropathic forms. In Sweden, neuropathic heredofamilial amyloidosis has been ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-14-88

    authors： Hemminki K,Li X,Försti A,Sundquist J,Sundquist K

    更新日期：2013-09-03 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

  • 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

  • Influence of FTO variants on obesity, inflammation and cardiovascular disease risk biomarkers in Spanish children: a case-control multicentre study.

    abstract：BACKGROUND:Variants in the FTO gene have been associated with obesity in children, but this association has not been shown with other biomarkers. We assessed the association of 52 FTO polymorphisms, spanning the whole gene, with obesity and estimated the influence of these polymorphisms on anthropometric, clinical and ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1186/1471-2350-14-123

    authors： Olza J,Ruperez AI,Gil-Campos M,Leis R,Fernandez-Orth D,Tojo R,Cañete R,Gil A,Aguilera CM

    更新日期：2013-12-01 00:00:00

  • Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya.

    abstract：BACKGROUND:The relationship between glucose-6-phosphate dehydrogenase (G6PD) deficiency and clinical phenomena such as primaquine-sensitivity and protection from severe malaria remains poorly defined, with past association studies yielding inconsistent and conflicting results. One possibility is that examination of a s...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-014-0093-6

    authors： Shah SS,Macharia A,Makale J,Uyoga S,Kivinen K,Craik R,Hubbart C,Wellems TE,Rockett KA,Kwiatkowski DP,Williams TN

    更新日期：2014-09-09 00:00:00

  • Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report.

    abstract：BACKGROUND:Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years old. Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to be the cause of PPD. ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-017-0507-3

    authors： Hu Q,Liu J,Wang Y,Wang J,Shi H,Sun Y,Wu X,Yang C,Teng J

    更新日期：2017-12-15 00:00:00

  • DNA methylation of the glucagon-like peptide 1 receptor (GLP1R) in human pancreatic islets.

    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...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-14-76

    authors： Hall E,Dayeh T,Kirkpatrick CL,Wollheim CB,Dekker Nitert M,Ling C

    更新日期：2013-07-23 00:00:00