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 30 months with mild AMC phenotype with cognitive and speech delay. On whole exome sequencing, a novel biallelic sequence variant in initiation codon of LGI4 (leucine-rich glioma-inactivated 4) gene was identified in her. Real-Time PCR revealed 50% reduction in mRNA transcript levels in subject as compared to control which explains the milder phenotype. Till date, only four families with nine affected individuals with LGI4-related AMC have been reported. Except for one child surviving up to 6 years, all others were either terminated after prenatal diagnosis or succumbed in neonatal period. This study adds to mutation spectrum of LGI4 and reports the second case of mild AMC with extended phenotype. We review the existing phenotypic and genotypic information for the individuals with this condition and highlight the intrafamilial and interfamilial variability in these individuals.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Mishra S,Rai A,Srivastava P,Phadke SRdoi
10.1016/j.ejmg.2019.103756subject
Has Abstractpub_date
2020-03-01 00:00:00pages
103756issue
3eissn
1769-7212issn
1878-0849pii
S1769-7212(19)30298-8journal_volume
63pub_type
杂志文章,评审abstract：:Constitutional mosaicism for trisomy 3 is extremely rare, with only a few postnatally diagnosed cases reported in the literature. We report a case of constitutional trisomy 3 mosaicism in a 16-year-old female, who presented with chronic joint pain, easy bruising, joint hypermobility and dysmorphic features, including ...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2016.10.002
更新日期：2016-11-01 00:00:00
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
更新日期：2009-03-01 00:00:00
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
更新日期：2017-04-01 00:00:00
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
更新日期：2019-03-01 00:00:00
abstract：:Choanal atresia causes serious posterior nasal obstruction. This defect is the leading cause of nasal surgery in newborns, although its etiology is largely unknown. Data from the National Birth Defects Prevention Study, a population-based case-control study, were used to examine associations between maternal self-repo...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2014.02.010
更新日期：2014-04-01 00:00:00
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
更新日期：2006-11-01 00:00:00
abstract：:Congenital heart defects (CHD) are associated with the recurrent 10q22q23 deletion syndrome and with partially overlapping distal 10q23.2.q23.31 microdeletions. We report on a de novo intragenic deletion of the BMPR1A gene in a normally developing adolescent boy with short stature, delayed puberty, facial dysmorphism ...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2011.10.003
更新日期：2012-01-01 00:00:00
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
更新日期：2019-07-01 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：: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：:Children with major congenital anomalies often require lifelong access to health and social care services. Estimating future numbers of affected individuals can aid health and social care planning. This study aimed to estimate the number of children aged 0-15 years living with spina bifida or Down syndrome in England ...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2018.05.012
更新日期：2018-09-01 00:00:00
abstract：:Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p2...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2012.10.008
更新日期：2013-01-01 00:00:00
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
更新日期：2014-05-01 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：:We report here a 44 years-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichtyosis and glomerulonephritis, carrying a 10 Mb duplication of the chromosome 5q31.3-5q32.1 region detected by array-CGH. ...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2011.01.005
更新日期：2011-05-01 00:00:00
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
更新日期：2020-04-01 00:00:00
abstract：:Mutations within the faciogenital dysplasia 1 (FGD1) gene in individuals with clinical features of Aarskog-Scott syndrome (AAS) include missense mutations and insertions and deletions that result in frameshifts and premature terminations. Whole gene deletion and duplication represent other mutational possibilities not...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2008.12.001
更新日期：2009-07-01 00:00:00
abstract：BACKGROUND:Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter. Neutropenia represents major feature of GSD-Ib along with metabolic disturbances. Previous research in GSD-Ib patients did not reveal...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2019.103767
更新日期：2020-03-01 00:00:00
abstract：:The 17q21.31 microdeletion syndrome is a genetic disorder characterized by intellectual disability, facial dysmorphisms and a typical behavioral phenotype. Patients are usually described as friendly and cooperative but they can also show behavioral problems such as hyperactivity, bad humor, temper tantrums and poor in...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2012.04.010
更新日期：2012-08-01 00:00:00
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journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2008.10.004
更新日期：2009-01-01 00:00:00
abstract：:Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2017.10.018
更新日期：2018-02-01 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：: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
更新日期：2020-03-01 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：: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
更新日期：2008-01-01 00:00:00
abstract：:Linkage mapping in a three-generation family with a distal arthrogryposis (DA) phenotype intermediate between DA2A and DA1 indicated linkage to 11p15.5 but not 9p13. Follow up DNA sequencing of the TNNI2 gene detected a three base pair deletion that would be predicted to result in the deletion of a glutamic acid at co...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2005.06.003
更新日期：2006-03-01 00:00:00
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
更新日期：2011-03-01 00:00:00
abstract：:We report a boy with severe syndromic intellectual disability who has a de novo mutation in the ZMYND11 gene. Arguments for pathogenicity of this mutation are found in cases from the literature, especially several with 10p15.3 deletions, harbouring ZMYND11. Additional reports of ZMYND11 mutations in cases with syndrom...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2014.09.002
更新日期：2014-11-01 00:00:00
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
更新日期：2010-11-01 00:00:00
abstract：:Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinations of primary hypothyroidism, respiratory distress and neurological disorders. Deletions proximal to, but not encompassing, NKX2-1 have been described in few subjects with brain-lung-thyroid syndrom...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2018.03.011
更新日期：2018-10-01 00:00:00
