当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.

Abstract：

:Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and steatosis. Microscopically, intrahepatic cytoplasmic inclusions and fibrosis are seen. We report a five-year-old male patient who presented a severe episode of acute liver failure (ALF). Exome sequencing identified compound heterozygous pathogenic/likely pathogenic variants in the NGLY1 gene: NM_018297.3:c.1891del, p.(Gln631Serfs*7) in exon 12 and NM_018297.3:c.531dup, p.(Asn178Glnfs*9) in exon 4. Serology for the most frequent viral hepatitis infections, autoimmune panel, and investigations for metabolic or toxic causes were also normal or negative. Hepatic disease resolved favorably after 46 days. Liver function tests and elastography remains normal after a 2-year follow-up. This is the first report of a reversible ALF among patients with NGLY1-CDDG. Although its definitive cause remains unknown, we suggest a direct relation between liver disease and mitochondrial respiratory chain damage in the context of impaired NGLY1 gene function. Further reports are required in order to know the long-term prognosis of ALF in patients with NGLY1-CDDG.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Rios-Flores IM,Bonal-Pérez MÁ,Castellanos-González A,Velez-Gómez E,Bertoli-Avella AM,Bobadilla-Morales L,Peña-Padilla C,Appendini-Andrade V,Corona-Rivera A,Romero-Valenzuela I,Corona-Rivera JR

doi

10.1016/j.ejmg.2020.103952

subject

Has Abstract

pub_date

2020-08-01 00:00:00

pages

103952

issue

8

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(20)30026-4

journal_volume

63

pub_type

杂志文章

相关文献

European Journal of Medical Genetics文献大全
  • Determination of the deletion breakpoints in two patients with contiguous gene syndrome encompassing CYBB gene.

    abstract：:X-linked chronic granulomatous disease is a primary immunodeficiency caused by mutations in CYBB. Although large deletions involving CYBB are known to cause contiguous gene syndrome (CGS), only a few patients have been studied precisely at the molecular levels. Our study determined the deletion breakpoints in two pati...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.08.003

    authors： Yamada M,Arai T,Oishi T,Hatano N,Kobayashi I,Kubota M,Suzuki N,Yoda M,Kawamura N,Ariga T

    更新日期：2010-11-01 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

  • Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.

    abstract：INTRODUCTION:Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The majority has a duplication of the peripheral myelin protein 22. CMT is otherwise caused by point mutations or small insertions/deletions in one of the 44 known CMT genes. METHODS AND RESULTS:Conve...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.06.006

    authors： Høyer H,Braathen GJ,Eek AK,Skjelbred CF,Russell MB

    更新日期：2011-11-01 00:00:00

  • Synophrys.

    abstract：INTRODUCTION:Meeting of the medial eyebrows in the midline (synophrys) may serve as a cutaneous marker lesion for syndromal disorders (e.g. Cornelia de Lange syndrome). CASE PRESENTATION:A 31-year-old man showed supercilia forming a single band of terminal hairs between left and right lateral orbital rim. Medical exam...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.02.001

    authors： Möhrenschlager M,Lauenstein M,Ring J,Steiner C

    更新日期：2010-07-01 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

  • 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

  • Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male.

    abstract：:We report a 35-year-old male with a ring chromosome 12 originally diagnosed 20 years prior to presentation with an ischemic stroke. Array CGH analysis revealed a sub-microscopic microdeletion and microduplication within 12p13.3 and a microdeletion in 12q24.33. FISH analysis further revealed that the duplication was in...

    journal_title：European journal of medical genetics

    pub_type： 信件

    doi：10.1016/j.ejmg.2010.09.014

    authors： Nik-Zainal S,Cotter PE,Willatt LR,Abbott K,O'Brien EW

    更新日期：2011-01-01 00:00:00

  • Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.

    abstract：:The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600 Kb Xp22.31 microdupl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.06.010

    authors： Qiao Y,Bagheri H,Tang F,Badduke C,Martell S,Lewis SME,Robinson W,Connolly MB,Arbour L,Rajcan-Separovic E

    更新日期：2019-02-01 00:00:00

  • Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases.

    abstract：:Currarino Syndrome (CS) is a rare congenital malformation characterized by three major clinical aspects: sacral anomalies, anorectal malformation and presacral mass. In familial settings the disorder is transmitted as autosomal dominant trait, with a wide phenotype variability and low penetrance. The causative gene of...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.09.011

    authors： Merello E,De Marco P,Ravegnani M,Riccipetitoni G,Cama A,Capra V

    更新日期：2013-12-01 00:00:00

  • Phenotypic variability in two patients with tumor necrosis factor receptor associated periodic fever syndrome emphasizes a rare manifestation: Immunoglobulin A nephropathy.

    abstract：:Tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) is caused by heterozygote mutations in TNFRSF1A, characterized by recurrent inflammatory attacks. In this report, we described two patients with different heterozygote mutations in TNFRSF1A. Patient 1, a 15-year-old male, had suffered from recur...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103780

    authors： Balci S,Kisla Ekinci RM,Melek E,Atmis B,Bisgin A,Yilmaz M

    更新日期：2020-04-01 00:00:00

  • Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome.

    abstract：INTRODUCTION:Cowden syndrome is a cancer predisposition syndrome caused by pathogenic variants in PTEN. The affected patients possess an increased risk of breast, thyroid, renal, colorectal, endometrial cancers as well as malignant melanoma. Thus prophylactic surveillance and follow up is crucial for these patients. M...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2020.103873

    authors： Smerdel MP,Skytte AB,Jelsig AM,Ebbehøj E,Stochholm K

    更新日期：2020-05-01 00:00:00

  • SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

    abstract：:Anophthalmia (A) and microphthalmia (M) are rare developmental anomalies that have significant effects on visual activity. In fraction of A/M subjects, single genetic defects have been identified as causative. In this study we analysed 65 Italian A/M patients, 21 of whom are syndromic, for mutations in SOX2, OTX2 and ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.12.005

    authors： Mauri L,Franzoni A,Scarcello M,Sala S,Garavelli L,Modugno A,Grammatico P,Patrosso MC,Piozzi E,Del Longo A,Gesu GP,Manfredini E,Primignani P,Damante G,Penco S

    更新日期：2015-02-01 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

  • 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

  • Split hand/foot malformation associated with 20p12.1 deletion: A case report.

    abstract：:Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated mal...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103805

    authors： Ruaud L,Flöttmann R,Spielmann M,Escande F,Van Maldergem L,Mundlos S,Piard J

    更新日期：2020-04-01 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

  • A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.

    abstract：:Dominant intermediate Charcot-Marie-Tooth disease F (CMTDIF) is an autosomal dominant hereditary form of Charcot-Marie-Tooth disease (CMT) caused by variations in the guanine nucleotide-binding protein, subunit beta-4 gene (GNB4). We examined two Japanese familial cases with CMT. Case 1 was a 49-year-old male whose ch...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.06.006

    authors： Miura S,Morikawa T,Fujioka R,Noda K,Kosaka K,Taniwaki T,Shibata H

    更新日期：2017-09-01 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

  • Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution.

    abstract：:We present three unrelated children with distinctive congenital facial skin lesions. All three children had two to three well-circumscribed, round or oval vesicular lesions, 1/2-1 cm in diameter on each cheek at birth. The lesions were located along an arc from the top of the ear to the corner of the mouth. Patient 1 ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2005.06.005

    authors： Prescott T,Devriendt K,Hamel B,Pasch MC,Peeters H,Vander Poorten V,Tallerås O

    更新日期：2006-03-01 00:00:00

  • 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

  • Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.

    abstract：:Autism Spectrum Disorders (ASD) are complex neurodevelopmental conditions characterized by delays in social interactions and communication as well as displays of restrictive/repetitive interests. DNA copy number variants have been identified as a genomic susceptibility factor in ASDs and imply significant genetic hete...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2013.05.006

    authors： Wang P,Carrion P,Qiao Y,Tyson C,Hrynchak M,Calli K,Lopez-Rangel E,Andrieux J,Delobel B,Duban-Bedu B,Thuresson AC,Annerén G,Liu X,Rajcan-Separovic E,Suzanne Lewis ME

    更新日期：2013-08-01 00:00:00

  • Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.

    abstract：:Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by deficiency of mitochondrial isovaleryl-CoA dehydrogenase (IVD). Accumulation of isovaleryl-CoA derivatives to toxic levels results in clinical symptoms of the disease. Here, we investigate the clinical and molecular featur...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2012.08.001

    authors： Hertecant JL,Ben-Rebeh I,Marah MA,Abbas T,Ayadi L,Ben Salem S,Al-Jasmi FA,Al-Gazali L,Al-Yahyaee SA,Ali BR

    更新日期：2012-12-01 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

  • Monozygotic twins discordant for vascular malformations and dysregulated growth.

    abstract：:There is a large group of disorders characterized by non-cranial vascular malformations and a dysregulated growth, of which the prototype may be Klippel-Trenaunay syndrome (KTS). The aetiology of KTS and vascular malformations-dysregulated growth (VM-DG) syndromes resembling KTS is obscure, but polygenic paradominant ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2009.08.004

    authors： Oduber CE,Bliek J,van der Horst CM,van Steensel MA,Hennekam RC

    更新日期：2010-01-01 00:00:00

  • Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.

    abstract：:Ring chromosome 20 (r(20)) syndrome is a rare disease characterized by refractory epilepsy, moderate mental retardation and particular electroencephalographic disorder with non-convulsive status epilepticus. Here, we report a new case of r(20) syndrome in a 12 year old female who presented minimal dysmorphism, general...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.07.002

    authors： Elghezal H,Hannachi H,Mougou S,Kammoun H,Triki C,Saad A

    更新日期：2007-11-01 00:00:00

  • Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods.

    abstract：:Male to female sex reversal in patients with 46,XY karyotype results from the failure of development of testis which may be due to mutations in the SRY gene. Only 10-15% of cases of 46,XY gonadal dysgenesis are accounted for by different types of mutations in the SRY gene. Hence, majority of such patients may have mut...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.04.010

    authors： Das DK,Sanghavi D,Gawde H,Idicula-Thomas S,Vasudevan L

    更新日期：2011-11-01 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

  • 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

  • Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.

    abstract：:The SHANK3 protein is a scaffold protein known to stabilize metabotropic glutamate receptor mGluR5 in the post-synaptic membrane of neurons. It is associated with genetic vulnerability in autism and schizophrenia. Here we report the case of an 18 year-old male patient who displayed psychiatric features of bipolar affe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2012.07.009

    authors： Vucurovic K,Landais E,Delahaigue C,Eutrope J,Schneider A,Leroy C,Kabbaj H,Motte J,Gaillard D,Rolland AC,Doco-Fenzy M

    更新日期：2012-11-01 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