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.170-7A > G, activates a cryptic splice acceptor and leads to the insertion of 2 amino acids at protein level (p.56-57insAT). The insertion disturbs the structure and function of the Conserved Oligomeric Golgi complex. In comparison to the previously described patients with a different COG7 mutation, intrauterine growth retardation and dysmorphic features were absent and there was a longer survival.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Zeevaert R,Foulquier F,Cheillan D,Cloix I,Guffon N,Sturiale L,Garozzo D,Matthijs G,Jaeken Jdoi
10.1016/j.ejmg.2009.06.006subject
Has Abstractpub_date
2009-09-01 00:00:00pages
303-5issue
5eissn
1769-7212issn
1878-0849pii
S1769-7212(09)00074-3journal_volume
52pub_type
杂志文章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
更新日期：2016-06-01 00:00:00
abstract：:We report a patient with congenital complex pituitary hormone deficiency (CPHD) with intestinal malrotation and anal atresia. We identified a de novo heterozygous mutation, c.664T > G (p.Cys222Gly), in the FOXA2 gene in this individual. This missense mutation had the potential to affect the DNA binding properties of t...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2018.11.004
更新日期：2019-11-01 00:00:00
abstract：:In addition to Down syndrome, individuals with other constitutional abnormalities of chromosome 21 have an increased risk of developing childhood acute lymphoblastic leukaemia (ALL). Specifically, carriers of the Robertsonian translocation between chromosomes 15 and 21, rob(15;21) (q10; q10)c, have ∼2,700 increased ri...
journal_title：European journal of medical genetics
pub_type： 杂志文章,评审
doi：10.1016/j.ejmg.2016.01.006
更新日期：2016-03-01 00:00:00
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
更新日期：2014-07-01 00:00:00
abstract：BACKGROUND:Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS gene have been identified in ten patients that present recurrent acute liver failure (RALF) in early infancy. In addition to severe liver dysfunction, some of these individuals also suffered from other comorbidities including cardiomy...
journal_title：European journal of medical genetics
pub_type： 杂志文章,评审
doi：10.1016/j.ejmg.2015.11.005
更新日期：2015-12-01 00:00:00
abstract：:A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical ...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2011.08.001
更新日期：2012-01-01 00:00:00
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
更新日期：2020-04-01 00:00:00
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
更新日期：2020-04-01 00:00:00
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
更新日期：2012-11-01 00:00:00
abstract：:Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can cause headaches, seizures and hemorrhagic stroke. Disease-associated mutations have been identified in three genes: CCM1/KRIT1, CCM2 and CCM3/PDCD10. The precise proportion of deep-intronic variants in these genes and th...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2017.06.007
更新日期：2017-09-01 00:00:00
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
更新日期：2015-01-01 00:00:00
abstract：:Mutations in Kelch-like family member 7 (KLHL7) have recently been described as a cause of a constellation of clinical findings with descriptions of both a Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1)-like, as well as a Bohring-Opitz syndrome (BOS)-like presentation. Here we report two siblings...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2018.10.003
更新日期：2019-09-01 00:00:00
abstract：:In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocerebellar hypoplasia type 2 (PCH2), fetal akinesia deformation sequence (FADS), rhizomelic chondrodysplasia punctata type 1 (RCDP1), and osteogenesis imperfecta (OI) type IIB/III. Ov...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2015.01.004
更新日期：2015-03-01 00:00:00
abstract：:Pantothenate kinase-associated neurodegeneration (PKAN) disease is an autosomal recessive neurodegenerative disorder with iron storage in the brain due to PANK2 gene mutations. Brain magnetic resonance imaging (MRI) shows the typical "eye-of-the-tiger" sign. The aim of the present study was to describe clinical, MRI a...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2013.08.007
更新日期：2013-11-01 00:00:00
abstract：:Numerous studies have shown that balanced reciprocal or Robertsonian translocations and inversions are associated with reduced or absent sperm production. In contrast, a similar association has been rarely reported for unbalanced translocations. An unbalanced translocation, 45,XY,-15,der(18)t(15;18)(q11.2;q23), was fo...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2010.03.003
更新日期：2010-05-01 00:00:00
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
更新日期：2020-11-01 00:00:00
abstract：:Say-Meyer syndrome is a rare and clinically heterogeneous syndrome characterized by trigonocephaly, short stature, developmental delay and hypotelorism. Nine patients with this syndrome have been reported thus far although no causative gene has yet been identified. Here, we report two siblings with clinical phenotypes...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2019.02.007
更新日期：2020-01-01 00:00:00
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
更新日期：2019-09-01 00:00:00
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
更新日期：2010-01-01 00:00:00
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
更新日期：2006-07-01 00:00:00
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
更新日期：2021-01-29 00:00:00
abstract：:A DNA repair protein, X-ray repair cross-complementing group 1 (XRCC1), has been implicated in the development of multiple cancers, including non-Hodgkin lymphoma (NHL). Recent studies evaluating the association between XRCC1 polymorphisms and NHL risk have been published. However, the published studies are controvers...
journal_title：European journal of medical genetics
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.ejmg.2015.12.011
更新日期：2016-02-01 00:00:00
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
更新日期：2020-01-01 00:00:00
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
更新日期：2015-06-01 00:00:00
abstract：:Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Who...
journal_title：European journal of medical genetics
pub_type： 杂志文章,评审
doi：10.1016/j.ejmg.2017.03.006
更新日期：2017-06-01 00:00:00
abstract：:The Genetic Counselling Outcome Scale (GCOS-24) is a 24-item patient reported outcome measure for use in evaluations of genetic counselling and testing services. The aim of this study was to develop a short form of GCOS-24. The study comprised three phases. Phase I: Cognitive interviews were used to explore interpreta...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2018.11.015
更新日期：2019-05-01 00:00:00
abstract：:We report on a 3-year-old girl with psychomotor retardation, cardiopathy, strabismus, umbilical hernia, and facial dysmorphism in whom a de novo unbalanced submicroscopic translocation (10p;18q) was found by MLPA (Multiplex Ligation dependent Probe Amplification) and FISH analyses. Additional FISH studies with locus s...
journal_title：European journal of medical genetics
pub_type： 杂志文章,评审
doi：10.1016/j.ejmg.2006.01.001
更新日期：2006-09-01 00:00:00
abstract：:Genetics has marked the second half of the 20th century by addressing such formidable problems as the identification of our genes and their role, their interaction with the environment, and even their therapeutic uses. The identification of genes raises questions about differences between humans and non-humans, as wel...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2012.05.007
更新日期：2012-10-01 00:00:00
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
更新日期：2016-06-01 00:00:00
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
更新日期：2020-02-01 00:00:00
