当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

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 PAX6 genes. In syndromic patients the presence of genome imbalances through array CGH was also investigated. No mutations were found for OTX2 and PAX6 genes. Three causative SOX2 mutations were found in subjects with syndromic A. In a subject with syndromic signs and monolateral M, two de novo 6.26 Mb and 1.37 Mb deletions in 4q13.2q13.3 have been identified. A SOX2 missense (p.Ala161Ser) mutation was found in 1 out of 39 a subject with non-syndromic monolateral M. Alanine at position 161 is conserved along phylogeny and the p.Ala161Ser mutation is estimated pathogenic by in silico analysis. However, this mutation was also present in the unaffected patient's daughter.

journal_name

Eur J Med Genet

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

doi

10.1016/j.ejmg.2014.12.005

subject

Has Abstract

pub_date

2015-02-01 00:00:00

pages

66-70

issue

2

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(14)00216-X

journal_volume

58

pub_type

杂志文章

相关文献

European Journal of Medical Genetics文献大全
  • The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families.

    abstract：:Muscular dystrophies (MDs) are a heterogeneous group of inherited disorders that are characterized by progressive skeletal muscle weakness and dystrophic changes on muscle biopsy. The broad genetic and clinical heterogeneity of MDs make the accurate diagnosis difficult via conventional approaches. This study investiga...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103845

    authors： Dardas Z,Swedan S,Al-Sheikh Qassem A,Azab B

    更新日期：2020-04-01 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

  • Unusual 8p inverted duplication deletion with telomere capture from 8q.

    abstract：:Inverted 8p duplication deletions are recurrent chromosomal rearrangements that are mediated through non-allelic homologous recombination (NAHR) between olfactory receptor (OR) gene clusters at 8p23.1. These rearrangements result in a proximal inverted duplication of various extent, a single copy region between the OR...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2008.10.007

    authors： Buysse K,Antonacci F,Callewaert B,Loeys B,Fränkel U,Siu V,Mortier G,Speleman F,Menten B

    更新日期：2009-01-01 00:00:00

  • Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems.

    abstract：:We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in add...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.03.009

    authors： Belligni EF,Hennekam RC

    更新日期：2010-07-01 00:00:00

  • Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

    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

    authors： Mastromoro G,Capalbo A,Guido CA,Torres B,Fabbretti M,Traversa A,Giancotti A,Ventriglia F,Bernardini L,Spalice A,Pizzuti A

    更新日期：2020-04-01 00:00:00

  • Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

    abstract：:The EMC1 gene, located on 1p36.13, encodes the subunit 1 of the endoplasmic reticulum-membrane protein complex, a highly conserved and ubiquitous multiprotein transmembrane complex. Pathogenic monoallelic and biallelic variants in EMC1 in humans have been reported only in six families, causing isolated visual impairme...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103897

    authors： Cabet S,Lesca G,Labalme A,Des Portes V,Guibaud L,Sanlaville D,Pons L

    更新日期：2020-06-01 00:00:00

  • Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007.

    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

    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

  • 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

  • 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

  • Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

    abstract：:Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.02.004

    authors： Hannes F,Drozniewska M,Vermeesch JR,Haus O

    更新日期：2010-05-01 00:00:00

  • High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.

    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

    authors： Rath M,Jenssen SE,Schwefel K,Spiegler S,Kleimeier D,Sperling C,Kaderali L,Felbor U

    更新日期：2017-09-01 00:00:00

  • A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

    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

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

    更新日期：2013-11-01 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

  • A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

    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

    authors： Bartsch O,Schindler D,Beyer V,Gesk S,van't Slot R,Feddersen I,Buijs A,Jaspers NG,Siebert R,Haaf T,Poot M

    更新日期：2012-01-01 00:00:00

  • The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.

    abstract：:The genetic control of dental development represents a complex series of events, which can very schematically be divided in two pathways: specification of type, size and position of each dental organ, and specific processes for the formation of enamel and dentin. Several genes linked with early tooth positioning and d...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2008.02.009

    authors： Bailleul-Forestier I,Molla M,Verloes A,Berdal A

    更新日期：2008-07-01 00:00:00

  • Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

    abstract：BACKGROUND:The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism. The phenotype is attributed to haploinsufficiency of two genes present in the minimal critical region of MDS: PAFAH1B1 (formerly referred to as LIS1) and YW...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.06.009

    authors： Schiff M,Delahaye A,Andrieux J,Sanlaville D,Vincent-Delorme C,Aboura A,Benzacken B,Bouquillon S,Elmaleh-Berges M,Labalme A,Passemard S,Perrin L,Manouvrier-Hanu S,Edery P,Verloes A,Drunat S

    更新日期：2010-09-01 00:00:00

  • Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.

    abstract：:Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage hair hypo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2021.104136

    authors： Lugli L,Ciancia S,Bertucci E,Lucaccioni L,Calabrese O,Madeo S,Berardi A,Iughetti L

    更新日期：2021-01-12 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

  • 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

    abstract：:There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited cl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.09.008

    authors： Shimojima K,Narai S,Togawa M,Doumoto T,Sangu N,Vanakker OM,de Paepe A,Edwards M,Whitehall J,Brescianini S,Petit F,Andrieux J,Yamamoto T

    更新日期：2016-10-01 00:00:00

  • FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.

    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

    authors： Boda H,Miyata M,Inagaki H,Shinkai Y,Kato T,Yoshikawa T,Kurahashi H

    更新日期：2019-11-01 00:00:00

  • Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

    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

    authors： Mochel F,Missirian C,Reynaud R,Moncla A

    更新日期：2008-01-01 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

  • Periapical cemental dysplasia is common in women with NF1.

    abstract：BACKGROUND:Neurofibromatosis type 1 (NF1) is a genetic disorder with skeletal involvement. Periapical cemental dysplasia is a rare finding in the normal population. METHOD:A total of 55 patients with NF1, 29 female and 26 male patients, were evaluated with orthopantomograms, supplemented with periapical radiographs if...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.04.001

    authors： Visnapuu V,Peltonen S,Ellilä T,Kerosuo E,Väänänen K,Happonen RP,Peltonen J

    更新日期：2007-07-01 00:00:00

  • PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.

    abstract：:Intellectual disability (ID) comprises a vast collection of clinically diverse and genetically heterogeneous disorders characterized primarily by central nervous system defects of varying severity with or without additional dysmorphic, metabolic, neuromuscular or psychiatric features. Much progress has been made to el...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.06.006

    authors： Backx L,Vermeesch J,Pijkels E,de Ravel T,Seuntjens E,Van Esch H

    更新日期：2010-09-01 00:00:00

  • Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

    abstract：:Hereditary spastic paraplegia (HSP) represents a large group of neurological disorders characterized by progressive spasticity of the lower limbs. One subtype of HSP shows an autosomal recessive form of inheritance with thin corpus callosum (ARHSP-TCC), and displays genetic heterogeneity with four known loci. We ident...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.10.006

    authors： Abdel Aleem A,Abu-Shahba N,Swistun D,Silhavy J,Bielas SL,Sattar S,Gleeson JG,Zaki MS

    更新日期：2011-01-01 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

  • Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.

    abstract：:Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- an...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2017.12.007

    authors： Peikert K,Danek A,Hermann A

    更新日期：2018-11-01 00:00:00

  • Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.10.002

    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

  • Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

    abstract：:Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation. BPAN mainly affects females and is characterized by seizures and developmental delay or intellectual disability until adolescence or early adul...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.07.008

    authors： Takano K,Goto K,Motobayashi M,Wakui K,Kawamura R,Yamaguchi T,Fukushima Y,Kosho T

    更新日期：2017-10-01 00:00:00

  • Could FISH on buccal smears become a new method of screening in children suspect of HNF1B anomaly?

    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

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2012.12.002

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

    更新日期：2013-02-01 00:00:00