当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

Abstract：

:Chromosomal imbalance of the 17q12 region (which includes the HNF1B transcription factor) has recently emerged as a frequent condition. 17q12 deletion was found in patients with various renal abnormalities, diabetes mellitus (MODY type 5), genital tract or liver test abnormalities, while 17q12 duplication was identified in a subset of patients with autism, mental retardation, epilepsy and/or schizophrenia but no renal disorder. We report here two first-degree relatives carrying a 17q12 duplication and harboring various renal abnormalities (bilateral hypoplastic kidneys with vesico-ureteric reflux or multicystic dysplatic kidney with contralateral hyperechogenic kidney). Esophageal atresia (EA) type C was identified at birth in one patient while none had neurological disorder. Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine additional patients with EA and renal abnormalities but failed to identify any pathogenic variant. This is the second report of HNF1B mutation associated with EA. Moreover, we showed herein, that renal malformations may be part of the 17q12 duplication syndrome.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Faguer S,Chassaing N,Bandin F,Prouheze C,Arveiler B,Rooryck C,Nogier MB,Chauveau D,Calvas P,Decramer S

doi

10.1016/j.ejmg.2011.03.010

subject

Has Abstract

pub_date

2011-07-01 00:00:00

pages

e437-40

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(11)00043-7

journal_volume

54

pub_type

杂志文章

相关文献

European Journal of Medical Genetics文献大全
  • 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

  • Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

    abstract：:The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 ge...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.12.002

    authors： Quélin C,Loget P,Verloes A,Bazin A,Bessières B,Laquerrière A,Patrier S,Grigorescu R,Encha-Razavi F,Delahaye S,Jouannic JM,Carbonne B,D'Hervé D,Aubry MC,Macé G,Harvey T,Ville Y,Viot G,Joyé N,Odent S,Attié-Bitach T

    更新日期：2012-02-01 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

  • Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.

    abstract：:Synpolydactyly (SPD) is an autosomal dominant limb malformation caused by mutations in the gene HOXD13. We investigated a Chinese family in which three individuals across three generations were affected with distinctive limb malformations. We extracted genomic DNA from the affected and three unaffected individuals fro...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.10.007

    authors： Gong L,Wang B,Wang J,Yu H,Ma X,Yang J

    更新日期：2011-03-01 00:00:00

  • Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism.

    abstract：:The psychomotor and somatic development from early childhood into adult life is described in a man with 46,XY,r(8)/46,XY mosaicism. The ring chromosome 8 appeared to be of normal length on G-banding, but terminal deletions on 8q and 8p were detected with FISH and CGH. By STR marker analysis the 8p deletion proved to b...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.08.004

    authors： Gradek GA,Kvistad PH,Houge G

    更新日期：2006-07-01 00:00:00

  • A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.

    abstract：:Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of congenital disorders characterized by multiple joint contractures. We report a family with two children affected with AMC. First child had a severe AMC phenotype and died in infancy. Second child, currently 4-years-old, was ascertained at the age of ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2019.103756

    authors： Mishra S,Rai A,Srivastava P,Phadke SR

    更新日期：2020-03-01 00:00:00

  • 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...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.03.008

    authors： Oliver C,Timson DJ

    更新日期：2017-06-01 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

  • 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

  • RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.

    abstract：:Copy number variants represent an important cause of neurodevelopmental disorders including epilepsy, which is genetically determined in 40% of cases. Epilepsy is caused by chromosomal imbalances or mutations in genes encoding subunits of neuronal voltage- or ligand-gated ion channels or proteins related to neuronal m...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.12.001

    authors： Baglietto MG,Caridi G,Gimelli G,Mancardi M,Prato G,Ronchetto P,Cuoco C,Tassano E

    更新日期：2014-01-01 00:00:00

  • Sex chromosomes-linked single-gene disorders involved in human infertility.

    abstract：:Human infertility is a healthcare problem that has a worldwide impact. Genetic causes of human infertility include chromosomal aneuploidies and rearrangements and single-gene defects. The sex chromosomes (X and Y) are critical players in human fertility since they contain several genes essential for sex determination ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2018.10.012

    authors： Jedidi I,Ouchari M,Yin Q

    更新日期：2019-09-01 00:00:00

  • Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

    abstract：:Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation. BPAN mainly affects females and is characterized by seizures and developmental delay or intellectual disability until adolescence or early adul...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.07.008

    authors： Takano K,Goto K,Motobayashi M,Wakui K,Kawamura R,Yamaguchi T,Fukushima Y,Kosho T

    更新日期：2017-10-01 00:00:00

  • A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.

    abstract：:An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1. Here we report a child with an early severe developmental and epileptic encephalopathy, spast...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103848

    authors： Vetri L,Calì F,Vinci M,Amato C,Roccella M,Granata T,Freri E,Solazzi R,Romano V,Elia M

    更新日期：2020-04-01 00:00:00

  • Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

    abstract：:Some cases of chromosome 7p22.3 deletions have been reported, but the genotype-phenotype correlation is still uncertain. Neurodevelopmental delay and heart anomalies have been recorded as the most recurrent defects. We describe the clinical features of a four-year-old male child with a 139 kb deletion at 7p22.3 involv...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103772

    authors： Mastromoro G,Capalbo A,Guido CA,Torres B,Fabbretti M,Traversa A,Giancotti A,Ventriglia F,Bernardini L,Spalice A,Pizzuti A

    更新日期：2020-04-01 00:00:00

  • Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.

    abstract：:We report on an 8(1)/(2)-year-old girl with severe pre- and postnatal growth retardation, congenital heart malformation, facial asymmetry, oculocutaneous albinism without misrouting and subluxation of the radial heads. Her intelligence was in the low normal range. By GTG-banding a deletion of band 15q26 was found. Arr...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.08.003

    authors： Poot M,Eleveld MJ,van 't Slot R,van Genderen MM,Verrijn Stuart AA,Hochstenbach R,Beemer FA

    更新日期：2007-11-01 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

  • Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.

    abstract：:Primary microcephalies (MCPH) are characterized by microcephaly (HC -2 SD at birth) in the absence of visceral malformations. To date, less than 20 genes have been associated with MCHP, several of which are involved in the formation and function of the centrosome. Here, we report a novel missense variant in the TUBGCP...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.12.003

    authors： Maver A,Čuturilo G,Kovanda A,Miletić A,Peterlin B

    更新日期：2019-12-01 00:00:00

  • Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

    abstract：:A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identifie...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.09.006

    authors： Mottet N,Cabrol C,Metz JP,Toubin C,Arbez-Gindre F,Valduga M,McElreavey K,Riethmuller D,Van Maldergem L,Piard J

    更新日期：2019-09-01 00:00:00

  • Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

    abstract：:Apparently balanced chromosome abnormalities are occasionally associated with mental retardation (MR). These balanced rearrangements may disrupt genes. However, the phenotype may also be caused by small abnormalities present at the breakpoints or elsewhere in the genome. Conventional karyotyping is not instrumental fo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.06.003

    authors： Gijsbers AC,Bosch CA,Dauwerse JG,Giromus O,Hansson K,Hilhorst-Hofstee Y,Kriek M,van Haeringen A,Bijlsma EK,Bakker E,Breuning MH,Ruivenkamp CA

    更新日期：2010-09-01 00:00:00

  • Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome.

    abstract：:We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.03.009

    authors： Bayat A,Kirchhoff M,Madsen CG,Kreiborg S

    更新日期：2018-08-01 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

  • Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.

    abstract：:De novo loss of function (LOF) mutations in the ASXL3 gene cause Bainbridge-Ropers syndrome, a severe form of intellectual disability (ID) and developmental delay, but there is evidence that they also occur in healthy individuals. This has prompted us to look for non-pathogenic LOF variants in other ID genes. Heterozy...

    journal_title：European journal of medical genetics

    pub_type： 信件

    doi：10.1016/j.ejmg.2015.10.007

    authors： Ropers HH,Wienker T

    更新日期：2015-12-01 00:00:00

  • Familial KANK1 deletion that does not follow expected imprinting pattern.

    abstract：:Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generation family. The inheritance pattern in this family was suggested to be ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.02.006

    authors： Vanzo RJ,Martin MM,Sdano MR,South ST

    更新日期：2013-05-01 00:00:00

  • Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever.

    abstract：:Familial Mediterranean fever (FMF) is a recessive autoinflammatory disorder. The balance between the pro-inflammatory cytokine IL-1β and its receptor antagonist IL-1RA plays an important role in the development of FMF. In order to determine a possible association of polymorphisms in IL-1β and IL-1RA genes with occurre...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.11.007

    authors： Ibrahim JN,Chouery E,Lecron JC,Mégarbané A,Medlej-Hashim M

    更新日期：2015-12-01 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

  • 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

  • LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

    abstract：:Alazami syndrome (AS) (MIM# 615071) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.07.003

    authors： Imbert-Bouteille M,Mau Them FT,Thevenon J,Guignard T,Gatinois V,Riviere JB,Boland A,Meyer V,Deleuze JF,Sanchez E,Apparailly F,Geneviève D,Willems M

    更新日期：2019-03-01 00:00:00

  • Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.

    abstract：INTRODUCTION:Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder due to heterozygous pathogenic variants in transforming growth factor beta (TGFβ) signaling-related genes. LDS types 1-6 are distinguished depending on the involved gene. LDS is characterized by multiple arterial aneurysms and d...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103727

    authors： Laterza D,Ritelli M,Zini A,Colombi M,Dell'Acqua ML,Vandelli L,Bigliardi G,Verganti L,Vallone S,Vincenzi C,Rosafio F,Ciolli L,Calabrese O,Nichelli PF,Picchetto L

    更新日期：2019-10-01 00:00:00

  • Gastrointestinal problems in 15q duplication syndrome.

    abstract：:Chromosome 15q duplication syndrome (Dup15q syndrome) is a neurodevelopmental disorder involving copy number gains of the maternal chromosome 15q11.2-q13 region, characterized by intellectual disability, developmental delay, autism spectrum disorder (ASD), and epilepsy. Gastrointestinal (GI) problems in Dup15q syndrom...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.12.012

    authors： Shaaya EA,Pollack SF,Boronat S,Davis-Cooper S,Zella GC,Thibert RL

    更新日期：2015-03-01 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