当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.

Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.

Abstract：

:Snyder-Robinson syndrome (OMIM #309583) is a rare X-linked condition, caused by mutation in the SMS gene (MIM *300105), characterized by a wide spectrum of clinical signs including developmental delay, epilepsy, asthenic habitus, dysmorphism, osteopenia, and renal or genital anomalies. Here we describe two maternal half-brothers who both presented with severe neurodevelopmental delay, seizures, hearing loss, facial dysmorphism, renal and ophthalmologic anomalies, failure to thrive and premature death. A novel p.(Gly203Asp) variant was found at the hemizygous state in the two boys, and an elevated Spermidine/Spermine ratio confirmed the diagnosis of Snyder-Robinson syndrome. One of the brothers presented with gastrointestinal symptoms, with jejunal stenosis, enteral feeding intolerance, failure to thrive due to a dysfunctional gastrointestinal system, cholestasis and exocrine pancreatic insufficiency. Although more studies will be needed to understand its mechanisms, this observation lends further support to the possibility of severe digestive involvement in Snyder Robinson syndrome.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Dontaine P,Kottos E,Dassonville M,Balasel O,Catros V,Soblet J,Perlot P,Vilain C

doi

10.1016/j.ejmg.2020.104097

subject

Has Abstract

pub_date

2021-01-01 00:00:00

pages

104097

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(20)30807-7

journal_volume

64

pub_type

杂志文章

相关文献

European Journal of Medical Genetics文献大全
  • 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

  • MAPH: from gels to microarrays.

    abstract：:The development of accurate and sensitive methodologies to detect small chromosomal imbalances (<3 Mb) is extremely important in clinical diagnostics and research in human genetics. The technique of array-comparative genomic hybridization (CGH) using BAC and PAC clones is very sensitive methodology and is rapidly beco...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2005.04.011

    authors： Patsalis PC,Kousoulidou L,Sismani C,Männik K,Kurg A

    更新日期：2005-07-01 00:00:00

  • Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.

    abstract：:Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no mosaicism in either parent but the mother showed uniparental disomy enco...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.07.018

    authors： Kawai M,Tsutsumi M,Suzuki F,Sameshima K,Dowa Y,Kyoya T,Inagaki H,Kurahashi H

    更新日期：2019-03-01 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

  • 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 compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.

    abstract：:Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most common causes of sudden cardiac death (SCD) during childhood and in adolescence. Trans-2, 3-enoyl-CoA reductase-like (Tecrl) gene mutations (Arg196Gln and c.331+1G > A splice site mutation) were first reported in CPVT. Tecrl homozygous c.3...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.01.018

    authors： Xie L,Hou C,Jiang X,Zhao J,Li Y,Xiao T

    更新日期：2019-07-01 00:00:00

  • Attitudes toward prenatal genetic testing and therapeutic termination of pregnancy among parents of offspring with Prader-Willi syndrome.

    abstract：INTRODUCTION:Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP beco...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.01.003

    authors： Even-Zohar Gross N,Geva-Eldar T,Pollak Y,Hirsch HJ,Gross I,Gross-Tsur V

    更新日期：2017-04-01 00:00:00

  • Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

    abstract：:Mosaicism involving a normal cell line and an unbalanced autosomal translocation are rare. In this study we present three new cases with such a mosaicism, which were detected by Single Nucleotide Polymorphism (SNP) array analysis in our routine diagnostic setting. These cases were further characterized using Fluoresce...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.05.002

    authors： Gijsbers AC,Dauwerse JG,Bosch CA,Boon EM,van den Ende W,Kant SG,Hansson KM,Breuning MH,Bakker E,Ruivenkamp CA

    更新日期：2011-07-01 00:00:00

  • Current perspectives on the etiology of agnathia-otocephaly.

    abstract：:Agnathia-otocephaly, a rare, sporadic and lethal malformation, is characterized by microstomia (small mouth), aglossia (absence of the tongue), agnathia (absence of the lower jaw) and abnormally positioned ears. It is a principal anomaly derived from the first pharyngeal arch as a consequence of failed mesenchymal mig...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2010.09.002

    authors： Gekas J,Li B,Kamnasaran D

    更新日期：2010-11-01 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

  • Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

    abstract：:We report on the observation of an interstitial deletion of the long arm of chromosome 1 diagnosed prenatally in a 28 weeks gestation fetus by standard karyotype. Amniocentesis was performed because of an increased Down syndrome maternal serum screening and ultrasonographic abnormalities. Fetus autopsy showed an intra...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2006.03.004

    authors： Chaabouni M,Martinovic J,Sanlaville D,Attié-Bittach T,Caillat S,Turleau C,Vekemans M,Morichon N

    更新日期：2006-11-01 00:00:00

  • Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

    abstract：:Microdeletion 12p13.33, though very rare, is an emerging condition associated with variable phenotype including a specific speech delay sound disorder, labelled childhood apraxia of speech (CAS), intellectual disability (ID) and neurobehavioral problems. Here we report a de novo 2.3 Mb interstitial 12p13.33-p13.32 del...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.04.009

    authors： Fanizza I,Bertuzzo S,Beri S,Scalera E,Massagli A,Sali ME,Giorda R,Bonaglia MC

    更新日期：2014-07-01 00:00:00

  • A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center.

    abstract：OBJECTIVE:To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center. METHODS:A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test an...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.104001

    authors： Luo Y,Hu H,Jiang L,Ma Y,Zhang R,Xu J,Pan Y,Long Y,Yao H,Liang Z

    更新日期：2020-09-01 00:00:00

  • CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

    abstract：:Copy number variations (CNVs) of the CNTN6 gene - a member of the contactin gene superfamily - have been previously proposed to have an association with neurodevelopmental and autism spectrum disorders. However, no functional evidence has been provided to date and phenotypically normal and mildly affected carriers com...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.02.008

    authors： Repnikova EA,Lyalin DA,McDonald K,Astbury C,Hansen-Kiss E,Cooley LD,Pfau R,Herman GE,Pyatt RE,Hickey SE

    更新日期：2020-01-01 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

  • Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.

    abstract：:We report on a patient with a microdeletion of chromosome region 9q22.32q31.1 including the PTCH1 gene (human homologue of the Drosophila patched 1 gene), review the findings in the reported patients with similar array CGH findings, and highlight the non nevoid basal cell carcinoma/non-Gorlin syndrome findings at an e...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2009.02.002

    authors： de Ravel TJ,Ameye L,Ballon K,Borghgraef M,Vermeesch JR,Devriendt K

    更新日期：2009-03-01 00:00:00

  • A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

    abstract：:Mental retardation (MR) is the most frequent cause of serious handicap in children and young adults. Despite recent progress, in most cases the molecular defects underlying this disorder remain unknown. Linkage studies followed by mutational analysis of known X-chromosomal genes related to mental retardation (MRX gene...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.01.010

    authors： Rejeb I,Ben Jemaa L,Abaied L,Kraoua L,Saillour Y,Maazoul F,Chelly J,Chaabouni H

    更新日期：2011-05-01 00:00:00

  • Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.

    abstract：:Mutations in the oligophrenin 1 gene (OPHN1) have been identified in patients with X-linked intellectual disability (XLID) associated with cerebellar hypoplasia and ventriculomegaly, suggesting it could be a recognizable syndromic intellectual disability (ID). Affected individuals share additional clinical features in...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2018.03.002

    authors： Moortgat S,Lederer D,Deprez M,Buzatu M,Clapuyt P,Boulanger S,Benoit V,Mary S,Guichet A,Ziegler A,Colin E,Bonneau D,Maystadt I

    更新日期：2018-08-01 00:00:00

  • Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.

    abstract：:Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectrodactyly of the feet associated with learning difficulties and minor phy...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.104009

    authors： Aerden M,Bauters M,Van Den Bogaert K,Vermeesch JR,Holvoet M,Plasschaert F,Devriendt K

    更新日期：2020-11-01 00:00:00

  • Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.

    abstract：INTRODUCTION:Chromosome Xq28 duplications encompassing methyl-CpG-binding protein 2 gene (MECP2) are observed most in males with a severe neurodevelopmental disorder associated with hypotonia, spasticity, severe learning disability, delayed psychomotor development, and recurrent pulmonary infections. Most female carrie...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.05.004

    authors： Yi Z,Pan H,Li L,Wu H,Wang S,Ma Y,Qi Y

    更新日期：2016-06-01 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

  • 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

  • Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

    abstract：:Osteogenesis imperfecta (OI) is an inherited heterogeneous rare skeletal disorder characterized by increased bone fragility and low bone mass. The disorder mostly segregates in an autosomal dominant manner. However, several rare autosomal recessive and X-linked forms, caused by mutations in 18 different genes, have al...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103954

    authors： Hayat A,Hussain S,Bilal M,Kausar M,Almuzzaini B,Abbas S,Tanveer A,Khan A,Siddiqi S,Foo JN,Ahmad F,Khan F,Khan B,Anees M,Mäkitie O,Alfadhel M,Ahmad W,Umair M

    更新日期：2020-08-01 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

  • Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome.

    abstract：:This report describes a patient who had bilateral facial nerve paralysis, external ophthalmoplegia, absence of pectoralis major muscle at right side, ipsilateral hand and foot, and contralateral hand anomalies. To our knowledge, this is the first patient with Poland syndrome reported in combination with Moebius syndro...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.01.022

    authors： Cetin II,Aktaş D,Tunçbilek E

    更新日期：2005-04-01 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

  • 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

  • Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood.

    abstract：:The Beckwith-Wiedemann syndrome is caused by disturbed imprinting of genes at 11p15.5. Routine diagnostic testing for Beckwith-Wiedemann syndrome (BWS) includes methylation analysis of the imprinting centers ICR1 and ICR2 in DNA extracted from lymphocytes. In approximately 15% of BWS patients the diagnosis cannot be m...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.03.011

    authors： Alders M,Maas SM,Kadouch DJ,van der Lip K,Bliek J,van der Horst CM,Mannens MM

    更新日期：2014-05-01 00:00:00

  • Severe skeletal dysplasia caused by undiagnosed hypothyroidism.

    abstract：:Due to increased awareness of early clinical signs and introduction of neonatal screening for congenital hypothyroidism, long-term untreated hypothyroidism has become rare. Nevertheless, neonatal screening for congenital hypothyroidism is not performed in all countries, and not every affected patient might be picked u...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.02.002

    authors： Hüffmeier U,Tietze HU,Rauch A

    更新日期：2007-05-01 00:00:00

  • 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 identifi...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.03.010

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

    更新日期：2011-07-01 00:00:00