当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency.

In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency.

Abstract：

:Triose phosphate isomerase (TPI) deficiency is a rare, but highly debilitating, inherited metabolic disease. Almost all patients suffer severe neurological effects and the most severely affected are unlikely to live beyond early childhood. Here, we describe an in silico study into well-characterised variants which are associated with the disease alongside an investigation into 79 currently uncharacterised TPI variants which are known to occur in the human population. The majority of the disease-associated mutations affected amino acid residues close to the dimer interface or the active site. However, the location of the altered amino acid residue did not predict the severity of the resulting disease. Prediction of the effect on protein stability using a range of different programs suggested a relationship between the degree of instability caused by the sequence variation and the severity of the resulting disease. Disease-associated variations tended to affect well-conserved residues in the protein's sequence. However, the degree of conservation of the residue was not predictive of disease severity. The majority of the 79 uncharacterised variants are potentially associated with disease since they were predicted to destabilise the protein and often occur in well-conserved residues. We predict that individuals homozygous for the corresponding mutations would be likely to suffer from TPI deficiency.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Oliver C,Timson DJ

doi

10.1016/j.ejmg.2017.03.008

subject

Has Abstract

pub_date

2017-06-01 00:00:00

pages

289-298

issue

6

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(16)30217-8

journal_volume

60

pub_type

杂志文章

相关文献

European Journal of Medical Genetics文献大全
  • Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients.

    abstract：:Alexander disease (AxD), a fatal degenerative leukoencephalopathy, is caused by de novo heterozygous missense mutations in the Glial Fibrillary Acidic Protein (GFAP) gene. The pathological hallmark of the disease is the presence of Rosenthal fibers, cytoplasmic inclusions in astrocytes, composed mainly of GFAP, αB-cry...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.07.002

    authors： Ferreira MC,Dorboz I,Rodriguez D,Boespflug Tanguy O

    更新日期：2015-09-01 00:00:00

  • A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

    abstract：:Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by biallelic pathogenic variants in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), va...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.11.012

    authors： Mancini C,Zonta A,Botta G,Breda Klobus A,Valbonesi S,Pasini B,Giorgio E,Viora E,Brusco A,Brussino A

    更新日期：2019-11-01 00:00:00

  • De novo copy number variants and parental age: Is there an association?

    abstract：PURPOSE:To investigate whether increased parental age is associated with an increased risk for de novo copy number variant (CNV) formation in offspring. METHODS:CNV calls from 2323 individuals referred to Signature Genomic Laboratories for clinical microarray-based comparative genomic hybridization were investigated; ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103829

    authors： Wadhawan I,Hai Y,Foyouzi Yousefi N,Guo X,Graham JM Jr,Rosenfeld JA

    更新日期：2020-04-01 00:00:00

  • A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.

    abstract：:CHARGE syndrome (MIM#214800) (Coloboma, Heart defect, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear abnormalities/deafness) is caused by heterozygous mutation of CHD7 transmitted in an autosomal dominant manner. In this report, we describe a patient with bilateral hearing impairment, unu...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.02.012

    authors： Wells C,Loundon N,Garabedian N,Wiener-Vacher S,Cordier-Bouvier MD,Goudeffroye G,Attié-Bitach T,Marlin S

    更新日期：2016-04-01 00:00:00

  • A patient with two mitochondrial DNA mutations causing PEO and LHON.

    abstract：:We report a 22-year-old man with PEO and optic atrophy. PEO developed before the onset of optic atrophy. The patient showed mitochondrial myopathy with cytochrome c oxidase deficient fibers. In skeletal muscle the patient was homoplasmic for the mtDNA G11778A Leber hereditary optic neuropathy (LHON) mutation and heter...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2008.10.004

    authors： Melberg A,Moslemi AR,Palm O,Raininko R,Stålberg E,Oldfors A

    更新日期：2009-01-01 00:00:00

  • Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

    abstract：BACKGROUND:Pathogenic variants in the BCOR gene have been identified in males with X-linked recessive microphthalmia and in females with X-linked dominant oculofaciocardiodental (OFCD) syndrome. This latter condition has previously been regarded as rare but the increased availability of genetic testing in recent years ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.04.015

    authors： Redwood A,Douzgou S,Waller S,Ramsden S,Roberts A,Bonin H,Lloyd IC,Ashworth J,Black GCM,Clayton-Smith J

    更新日期：2020-02-01 00:00:00

  • Enteric anendocrinosis attributable to a novel Neurogenin-3 variant.

    abstract：:Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with reces...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103981

    authors： Azab B,Dardas Z,Rabab'h O,Srour L,Telfah H,Hatmal MM,Mustafa L,Rashdan L,Altamimi E

    更新日期：2020-09-01 00:00:00

  • Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.

    abstract：:Cobalamin (cbl) C disease is a rare autosomal recessive inheritance disease, which is the most common cobalamin metabolic disorder. Its clinical phenotype involves multiple systems with varying degrees of severity, where in mild cases can be asymptomatic for many years, whereas severe cases may cause death during the ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2019.103713

    authors： Wang C,Li D,Cai F,Zhang X,Xu X,Liu X,Zhang C,Wang D,Liu X,Lin S,Zhang Y,Shu J

    更新日期：2019-10-01 00:00:00

  • A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations.

    abstract：:SHFM6 (OMIM 225300) is caused by WNT10B pathogenic variants (12q13.12). It is one of the rarest forms of SHFM; with only seven pathogenic variants described in the world literature. Furthermore, it has not been determined if SHFM6 has specific phenotypic characteristics. In this paper, we present a case series of thre...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103738

    authors： Al Ghamdi MA,Al-Qattan MM,Hadadi A,Alabdulrahman A,Almuzzaini B,Alatwi N,AlBalwi MA

    更新日期：2020-03-01 00:00:00

  • A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect.

    abstract：:Congenital heart defect (CHD) is the most common type of birth defect in humans and a leading cause of infant morbidity and mortality. Previous studies have demonstrated that genetic defects play a pivotal role in the pathogenesis of CHD. However, the genetic basis of CHD remains poorly understood due to substantial g...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.12.003

    authors： Qiao XH,Wang Q,Wang J,Liu XY,Xu YJ,Huang RT,Xue S,Li YJ,Zhang M,Qu XK,Li RG,Qiu XB,Yang YQ

    更新日期：2018-04-01 00:00:00

  • Oro-dental phenotype in patients with RUNX2 duplication.

    abstract：:Runt-related transcription factor 2 (RUNX2) is well-known for its role in bone development and tooth morphogenesis. Most RUNX2 mutations described in the literature result in loss-of-function mutations of RUNX2 responsible for cleidocranial dysplasia, an autosomal dominant disorder. We describe here the oro-dental phe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.05.019

    authors： Merametdjian L,Prud'Homme T,Le Caignec C,Isidor B,Lopez-Cazaux S

    更新日期：2019-02-01 00:00:00

  • Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.

    abstract：:The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT in...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.02.003

    authors： Kharbanda M,Hunter A,Tennant S,Moore D,Curtis S,Hancox JC,Murday V

    更新日期：2017-05-01 00:00:00

  • Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

    abstract：:Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion. Studies of terminal and interstitial deletions in male patients with a p...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.11.002

    authors： Mochel F,Missirian C,Reynaud R,Moncla A

    更新日期：2008-01-01 00:00:00

  • De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

    abstract：:We report a female patient with a complex phenotype consisting of failure to thrive, developmental delay, congenital bronchiectasis, gastroesophageal reflux and bilateral inguinal hernias. Chromosomal microarray analysis revealed a 230 kilobase deletion in chromosomal region 17q21.32 (arr[hg19] 17q21.32(46 550 362-46 ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.04.002

    authors： Pajusalu S,Reimand T,Uibo O,Vasar M,Talvik I,Zilina O,Tammur P,Õunap K

    更新日期：2015-06-01 00:00:00

  • Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

    abstract：:Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder remained without identified genetic cause. However, four recurrent microdeletions, i.e. 1q21.1...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103812

    authors： Smol T,Ribero-Karrouz W,Edery P,Gorduza DB,Catteau-Jonard S,Manouvrier-Hanu S,Ghoumid J

    更新日期：2020-04-01 00:00:00

  • A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.

    abstract：:Whole genome sequencing (WGS) holds the potential to identify pathogenic gene mutations, copy number variation, uniparental disomy and structural rearrangements in a single genetic test. With its high diagnostic yield and decreasing costs, the question arises whether WGS can serve as a single test for all referrals to...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.09.010

    authors： Hochstenbach R,van Binsbergen E,Schuring-Blom H,Buijs A,Ploos van Amstel HK

    更新日期：2019-09-01 00:00:00

  • Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.

    abstract：:We report on a patient with mental and growth retardation, bilateral cleft lip and palate, hypertelorism, ptosis, hearing loss and mild epispadias, suggestive of Malpuech syndrome. High-resolution karyotype and microarray-CGH using an oligonucleotide array with 75Kb oligo's were normal, excluding Wolf-Hirschhorn syndr...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2006.10.004

    authors： Priolo M,Ciccone R,Bova I,Campolo G,Laganà C,Zuffardi O

    更新日期：2007-03-01 00:00:00

  • Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.

    abstract：:Trinucleotide repeat disorders (TRDs) are a set of genetic disorders caused by trinucleotide repeat expansion in certain genes that exceed the normal, stable threshold, which varies from gene to gene. A dynamic mutation in a healthy gene may increase the repeat count and result in a defective gene. At present there ar...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.12.010

    authors： Das Bhowmik A,Rangaswamaiah S,Srinivas G,Dalal AB

    更新日期：2015-03-01 00:00:00

  • A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.

    abstract：:"Disorganized Development of Skeletal Component" (DDSC) is a group of genetic skeletal dysplasia, caused by mutations in 9 genes including ACVR1. The most known ACVR1-related disorder is fibrodysplasia ossificans progressiva (FOP). FOP variants are frequently encountered with diagnostic challenges due to overlapping c...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.05.007

    authors： Rafati M,Mohamadhashem F,Hoseini A,Hoseininasab F,Ghaffari SR

    更新日期：2016-06-01 00:00:00

  • A new mutation in COG7 extends the spectrum of COG subunit deficiencies.

    abstract：:We describe a patient homozygous for a novel mutation in COG7, coding for one of the subunits of the Conserved Oligomeric Golgi complex, involved in retrograde vesicular trafficking. His brother showed a similar clinical syndrome and glycosylation defect but no DNA could be obtained from this patient. This mutation, c...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2009.06.006

    authors： Zeevaert R,Foulquier F,Cheillan D,Cloix I,Guffon N,Sturiale L,Garozzo D,Matthijs G,Jaeken J

    更新日期：2009-09-01 00:00:00

  • Non-mosaic uniparental trisomy 16 presenting with asplenia syndrome and placental abruption: a case report and literature review.

    abstract：:Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2013.01.010

    authors： Su MT,Liang YL,Chen JC,Sun HS,Chang FM,Kuo PL

    更新日期：2013-04-01 00:00:00

  • Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

    abstract：:Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.02.004

    authors： Hannes F,Drozniewska M,Vermeesch JR,Haus O

    更新日期：2010-05-01 00:00:00

  • A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

    abstract：:We report on a male patient with intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay. Array CGH analysis revealed a 649 kb duplication on chromosome 1p34.1. Only five patients with overlapping duplications have been reported thus far. Ten known genes are located in the dupl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2009.01.005

    authors： Hanemaaijer N,Dijkhuizen T,Haadsma M,Boeve M,Boon M,Hordijk R,Kok K,Sikkema-Raddatz B,van Ravenswaaij-Arts CM

    更新日期：2009-03-01 00:00:00

  • Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.

    abstract：:Despite numerous clinical series, consistent karyotype-phenotype correlations for Turner syndrome have not been established, although a lower level of 45,X is generally thought to be associated with a milder phenotype. This limits personalized counseling for women with 45,X/46,XX mosaicism. To better understand the ph...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2021.104140

    authors： Snyder EA,San Roman AK,Piña-Aguilar RE,Steeves MA,McNamara EA,Souter I,Hayes FJ,Levitsky LL,Lin AE

    更新日期：2021-01-29 00:00:00

  • Could FISH on buccal smears become a new method of screening in children suspect of HNF1B anomaly?

    abstract：:HNF1B gene anomalies include renal development defects associated with cysts and are well known by pediatric nephrologists that ask for molecular analysis of this gene. Two types of genomic rearrangements are reported: mutation and more frequently deletion. Using microsatellites or CGH array the size of the deletion w...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2012.12.002

    authors： Laffargue F,Bourthoumieu S,Bellanné-Chantelot C,Guigonis V,Yardin C

    更新日期：2013-02-01 00:00:00

  • Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

    abstract：:Osteogenesis imperfecta is a heritable connective tissue disorder characterized by variable symptoms including predisposition to fractures. Despite the identification of numerous mutations, a reliable genotype-phenotype correlation has remained notoriously difficult. We now describe two patients with osteogenesis impe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.10.002

    authors： Reuter MS,Schwabe GC,Ehlers C,Marschall C,Reis A,Thiel C,Graul-Neumann L

    更新日期：2013-12-01 00:00:00

  • Endocervical trophoblast for interrogating the fetal genome and assessing pregnancy health at five weeks.

    abstract：:Prenatal testing for fetal genetic traits and risk of obstetrical complications is essential for maternal-fetal healthcare. The migration of extravillous trophoblast (EVT) cells from the placenta into the reproductive tract and accumulation in the cervix offers an exciting avenue for prenatal testing and monitoring pl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103690

    authors： Kadam L,Jain C,Kohan-Ghadr HR,Krawetz SA,Drewlo S,Armant DR

    更新日期：2019-08-01 00:00:00

  • A study of familial Mediterranean Fever (MEFV) gene mutations in Egyptian children with type 1 diabetes mellitus.

    abstract：BACKGROUND/AIMS:An association of type 1 DM and familial Mediterranean fever (FMF) has been newly reported in the medical literature. The aim of the present work was to investigate frequency of MEFV gene mutations in Egyptian children with type 1 diabetes mellitus. METHODS:Forty five children with type 1 DM were scree...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.10.005

    authors： Anwar GM,Fouad HM,Abd El-Hamid A,Mahmoud F,Musa N,Lotfi H,Salah N

    更新日期：2015-01-01 00:00:00

  • Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

    abstract：:Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromic OA/TOF, but no si...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.10.007

    authors： Smigiel R,Marcelis C,Patkowski D,de Leeuw N,Bednarczyk D,Barg E,Mascianica K,Maria Sasiadek M,Brunner H

    更新日期：2014-01-01 00:00:00

  • Periapical cemental dysplasia is common in women with NF1.

    abstract：BACKGROUND:Neurofibromatosis type 1 (NF1) is a genetic disorder with skeletal involvement. Periapical cemental dysplasia is a rare finding in the normal population. METHOD:A total of 55 patients with NF1, 29 female and 26 male patients, were evaluated with orthopantomograms, supplemented with periapical radiographs if...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.04.001

    authors： Visnapuu V,Peltonen S,Ellilä T,Kerosuo E,Väänänen K,Happonen RP,Peltonen J

    更新日期：2007-07-01 00:00:00