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

authors： Ferreira MC,Dorboz I,Rodriguez D,Boespflug Tanguy O

更新日期：2015-09-01 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

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

abstract：:Moebius syndrome (MBS) is a rare congenital disorder characterized by rhombencephalic mal development, mainly presenting with facial palsy with limited gaze abduction. Most cases are sporadic, possibly caused by a combination of environmental and genetic factors; however, no proven specific associations have been yet ...

journal_title：European journal of medical genetics

authors： Uyguner ZO,Toksoy G,Altunoglu U,Ozgur H,Basaran S,Kayserili H

更新日期：2015-06-01 00:00:00

abstract：:Trinucleotide repeat disorders (TRDs) are a set of genetic disorders caused by trinucleotide repeat expansion in certain genes that exceed the normal, stable threshold, which varies from gene to gene. A dynamic mutation in a healthy gene may increase the repeat count and result in a defective gene. At present there ar...

journal_title：European journal of medical genetics

authors： Das Bhowmik A,Rangaswamaiah S,Srinivas G,Dalal AB

更新日期：2015-03-01 00:00:00

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

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

更新日期：2015-03-01 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

authors： Mathijssen IB,Henneman L,van Eeten-Nijman JM,Lakeman P,Ottenheim CP,Redeker EJ,Ottenhof W,Meijers-Heijboer H,van Maarle MC

更新日期：2015-03-01 00:00:00

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

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

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

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

abstract：:Here we report three patients affected with neurodevelopmental disorders and harbouring 21q21 deletions involving NCAM2 gene. NCAM (Neural Cell Adhesion Molecule) proteins are involved in axonal migration, synaptic formation and plasticity. Poor axonal growth and fasciculation is observed in animal models deficient fo...

journal_title：European journal of medical genetics

authors： Petit F,Plessis G,Decamp M,Cuisset JM,Blyth M,Pendlebury M,Andrieux J

更新日期：2015-01-01 00:00:00

abstract：:Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000 live births and the disease is the most common cause of fibrous tumors in infancy. Cases which lack visceral involvement generally have a more benign co...

journal_title：European journal of medical genetics

authors： Linhares ND,Freire MC,Cardenas RG,Pena HB,Bahia M,Pena SD

更新日期：2014-11-01 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

authors： Cobben JM,Weiss MM,van Dijk FS,De Reuver R,de Kruiff C,Pondaag W,Hennekam RC,Yntema HG

更新日期：2014-11-01 00:00:00

abstract：:Neuronal ceroid lipofuscinosis (NCL) refers to a growing heterogeneous group of neurodegenerative disorders characterized by lysosomal accumulation of abnormal autofluorescent material. NCLs are traditionally classified clinically according to their age of onset. Variable late infantile NCL (vLINCL) is the most geneti...

journal_title：European journal of medical genetics

authors： Mandel H,Cohen Katsanelson K,Khayat M,Chervinsky I,Vladovski E,Iancu TC,Indelman M,Horovitz Y,Sprecher E,Shalev SA,Spiegel R

更新日期：2014-11-01 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

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

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

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

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

authors： Kancherla V,Romitti PA,Sun L,Carey JC,Burns TL,Siega-Riz AM,Druschel CM,Lin AE,Olney RS,National Birth Defects Prevention Study.

更新日期：2014-04-01 00:00:00

abstract：:Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromic OA/TOF, but no si...

journal_title：European journal of medical genetics

authors： Smigiel R,Marcelis C,Patkowski D,de Leeuw N,Bednarczyk D,Barg E,Mascianica K,Maria Sasiadek M,Brunner H

更新日期：2014-01-01 00:00:00

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

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

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

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

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

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

更新日期：2013-12-01 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

authors： Pérez-González EA,Chacón-Camacho OF,Arteaga-Vázquez J,Zenteno JC,Mutchinick OM

更新日期：2013-11-01 00:00:00

abstract：:Kabuki syndrome (KS) is a rare syndrome associating malformations with intellectual deficiency and numerous visceral, orthopedic, endocrinological, immune and autoimmune complications. The early establishment of a diagnostic of KS leads to better care of the patients and therefore prevents complications such as percep...

journal_title：European journal of medical genetics

authors： Michot C,Corsini C,Sanlaville D,Baumann C,Toutain A,Philip N,Busa T,Holder M,Faivre L,Odent S,Delrue MA,Till M,Jacquemont ML,Cordier MP,Goldenberg A,Sanchez E,Alix E,Poisson S,Kayirangwa H,Lacombe D,Gilbert-Dussar

更新日期：2013-10-01 00:00:00

abstract：:Multiple sclerosis is not known to be a risk factor for subsequent development of cancer. Recently, a multiple sclerosis locus was mapped adjacent to BRCA1 gene. We present a familial case affected by multiple sclerosis and cancer. We identified a c.5266dupC (5382insC) frameshift mutation in a 33-year-old woman with b...

journal_title：European journal of medical genetics

authors： Holzmann C,Bauer I,Meyer P

更新日期：2013-10-01 00:00:00

abstract：:Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, hypertrichosis and intellectual disability. The molecular basis of ZLS is unknown. Most patients are sporadic, although familial aggregation is also observed with differen...

journal_title：European journal of medical genetics

authors： Castori M,Valiante M,Pascolini G,Leuzzi V,Pizzuti A,Grammatico P

更新日期：2013-10-01 00:00:00

abstract：:Genomic rearrangements at chromosome 13q31.3q32.1 have been associated with digital anomalies, dysmorphic features, and variable degree of mental disability. Microdeletions leading to haploinsufficiency of miR17∼92, a cluster of micro RNA genes closely linked to GPC5 in both mouse and human genomes, has recently been ...

journal_title：European journal of medical genetics

authors： Kannu P,Campos-Xavier AB,Hull D,Martinet D,Ballhausen D,Bonafé L

更新日期：2013-08-01 00:00:00

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

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

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

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

更新日期：2013-05-01 00:00:00

abstract：:Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise...

journal_title：European journal of medical genetics

authors： Su MT,Liang YL,Chen JC,Sun HS,Chang FM,Kuo PL

更新日期：2013-04-01 00:00:00

abstract：:Bilateral multilocular radiolucencies of the mandible are the main feature of cherubism (OMIM #118400), a rare autosomal dominant disorder primarily affecting the jaw. Typically, symmetrical swelling of the lower face is evident from around three years of age and increases until puberty. The underlying radiolucent les...

journal_title：European journal of medical genetics

authors： Prescott T,Redfors M,Rustad CF,Eiklid KL,Geirdal AØ,Storhaug K,Jensen JL

更新日期：2013-03-01 00:00:00

abstract：:HNF1B gene anomalies include renal development defects associated with cysts and are well known by pediatric nephrologists that ask for molecular analysis of this gene. Two types of genomic rearrangements are reported: mutation and more frequently deletion. Using microsatellites or CGH array the size of the deletion w...

journal_title：European journal of medical genetics

authors： Laffargue F,Bourthoumieu S,Bellanné-Chantelot C,Guigonis V,Yardin C

更新日期：2013-02-01 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

authors： Rocca MS,Faletra F,Devescovi R,Gasparini P,Pecile V

更新日期：2013-01-01 00:00:00

abstract：:Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel homozygous mutation (c.46C > T, p.Arg16X) in SNX10, in an Iraqi boy from a consanguineous family with a history of infantile o...

journal_title：European journal of medical genetics

authors： Mégarbané A,Pangrazio A,Villa A,Chouery E,Maarawi J,Sabbagh S,Lefranc G,Sobacchi C

更新日期：2013-01-01 00:00:00

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

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

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

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

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

authors： Mattei JF

更新日期：2012-10-01 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

authors： Terrone G,D'Amico A,Imperati F,Carella M,Palumbo O,Gentile M,Canani RB,Melis D,Romano A,Parente I,Riccitelli M,Del Giudice E

更新日期：2012-08-01 00:00:00

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

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

abstract：:We identified a 495 Kb interstitial deletion of chromosome Xp22.2, centered on the AP1S2 gene, by means of oligonucleotide array comparative genomic hybridisation (array-CGH) in a child with marked hypotonia in the first months of life, psychomotor retardation, severely delayed walking and speech development, and unsp...

journal_title：European journal of medical genetics

authors： Ballarati L,Cereda A,Caselli R,Maitz S,Russo S,Selicorni A,Larizza L,Giardino D

更新日期：2012-02-01 00:00:00

abstract：:We report here a child with a ring chromosome 5 (r(5)) associated with facial dysmorphology and multiple congenital abnormalities. Fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones was performed to determine the breakpoints involved in the r(5). The 5p deletion extended from 5...

journal_title：European journal of medical genetics

authors： Basinko A,Giovannucci Uzielli ML,Scarselli G,Priolo M,Timpani G,De Braekeleer M

更新日期：2012-02-01 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

authors： Breckpot J,Tranchevent LC,Thienpont B,Bauters M,Troost E,Gewillig M,Vermeesch JR,Moreau Y,Devriendt K,Van Esch H

更新日期：2012-01-01 00:00:00

abstract：:We report a new case of 8q interstitial duplication in a patient with dysmorphic features, umbilical hernia, cryptorchidism, short stature, congenital heart defect and mild mental retardation (MR). Chromosome analysis with high resolution QFQ bands showed 46,XY, 8q+, which was interpreted as a partial duplication of t...

journal_title：European journal of medical genetics

authors： Concolino D,Iembo MA,Moricca MT,Rapsomaniki M,Marotta R,Galesi O,Fichera M,Romano C,Strisciuglio P

更新日期：2012-01-01 00:00:00