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 necessary. The vitality of the teeth was measured by two different testing methods. RESULTS:A novel finding was the occurrence of cemental dysplasia affecting the periapical area of vital mandibular teeth in 8 adult women with NF1. Thus, cemental dysplasia was detected in 34.8% of the adult female NF1 patients, while cemental dysplasia was not present in men or children with NF1. CONCLUSION:Periradicular cemental dysplasia is indeed a new NF1 related bone lesion type. Our finding suggests that this is the first reported sexual dimorphism in the manifestations of NF1. Cemental dysplasia of NF1 patients should not be confused with periapical findings caused by endodontic pathoses. The former do not require active therapy whereas in the latter root canal treatment is necessary.

journal_name

Eur J Med Genet

authors

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

doi

10.1016/j.ejmg.2007.04.001

subject

Has Abstract

pub_date

2007-07-01 00:00:00

pages

274-80

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(07)00034-1

journal_volume

50

pub_type

杂志文章
  • A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.

    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

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2015.05.003

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

    更新日期:2015-06-01 00:00:00

  • De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

    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

    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

  • HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy.

    abstract::A very recent study suggested that HCN4 mutations could be associated with sinusal bradycardia and myocardial non compaction. A French family with 3 affected sisters presenting the same clinical phenotype (sinus bradycardia in combination with non compaction cardiomyopathy (NCCM)) have benefited both from a systematic...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2015.06.004

    authors: Millat G,Janin A,de Tauriac O,Roux A,Dauphin C

    更新日期:2015-09-01 00:00:00

  • Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.

    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

    authors: de Ravel TJ,Ameye L,Ballon K,Borghgraef M,Vermeesch JR,Devriendt K

    更新日期:2009-03-01 00:00:00

  • Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

    abstract::A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identifie...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.09.006

    authors: Mottet N,Cabrol C,Metz JP,Toubin C,Arbez-Gindre F,Valduga M,McElreavey K,Riethmuller D,Van Maldergem L,Piard J

    更新日期:2019-09-01 00:00:00

  • A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

    abstract::We report on a young boy carrying a de novo 580 kb deletion in the 17q21.32 chromosomal band detected by array-CGH. He had multiple malformations including cardiac abnormalities, cleft palate, mental retardation, microcephaly, pronounced metopic suture and other minor facial dysmorphic features. This is the first case...

    journal_title:European journal of medical genetics

    pub_type: 信件

    doi:10.1016/j.ejmg.2007.09.003

    authors: Rooryck C,Burgelin I,Stef M,Taine L,Thambo JB,Lacombe D,Arveiler B

    更新日期:2008-01-01 00:00:00

  • 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

  • Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.

    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

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2014.08.010

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

    更新日期:2014-11-01 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

  • Attitudes toward prenatal genetic testing and therapeutic termination of pregnancy among parents of offspring with Prader-Willi syndrome.

    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

    authors: Even-Zohar Gross N,Geva-Eldar T,Pollak Y,Hirsch HJ,Gross I,Gross-Tsur V

    更新日期:2017-04-01 00:00:00

  • Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.

    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

    authors: Gong L,Wang B,Wang J,Yu H,Ma X,Yang J

    更新日期:2011-03-01 00:00:00

  • Enteric anendocrinosis attributable to a novel Neurogenin-3 variant.

    abstract::Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with reces...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.103981

    authors: Azab B,Dardas Z,Rabab'h O,Srour L,Telfah H,Hatmal MM,Mustafa L,Rashdan L,Altamimi E

    更新日期:2020-09-01 00:00:00

  • Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.

    abstract::We report on a patient with mental and growth retardation, bilateral cleft lip and palate, hypertelorism, ptosis, hearing loss and mild epispadias, suggestive of Malpuech syndrome. High-resolution karyotype and microarray-CGH using an oligonucleotide array with 75Kb oligo's were normal, excluding Wolf-Hirschhorn syndr...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2006.10.004

    authors: Priolo M,Ciccone R,Bova I,Campolo G,Laganà C,Zuffardi O

    更新日期:2007-03-01 00:00:00

  • Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

    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

    authors: Aggarwal A,Rodriguez-Buritica DF,Northrup H

    更新日期:2017-06-01 00:00:00

  • CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.

    abstract::Genetic conditions comprise a wide spectrum of different phenotypes, rapidly expanding due to new diagnostic methodologies. Patients' facial features and clinical history represent the key elements leading clinicians to the right diagnosis. CDKL5-early onset epilepsy and Pitt-Hopkins syndrome are two well-known geneti...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.104102

    authors: Currò A,Doddato G,Bruttini M,Zollino M,Marangi G,Zappella M,Renieri A,Pinto AM

    更新日期:2021-01-01 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

  • Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever.

    abstract::Familial Mediterranean fever (FMF) is a recessive autoinflammatory disorder. The balance between the pro-inflammatory cytokine IL-1β and its receptor antagonist IL-1RA plays an important role in the development of FMF. In order to determine a possible association of polymorphisms in IL-1β and IL-1RA genes with occurre...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2015.11.007

    authors: Ibrahim JN,Chouery E,Lecron JC,Mégarbané A,Medlej-Hashim M

    更新日期:2015-12-01 00:00:00

  • Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

    abstract::Osteogenesis imperfecta (OI) is an inherited heterogeneous rare skeletal disorder characterized by increased bone fragility and low bone mass. The disorder mostly segregates in an autosomal dominant manner. However, several rare autosomal recessive and X-linked forms, caused by mutations in 18 different genes, have al...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.103954

    authors: Hayat A,Hussain S,Bilal M,Kausar M,Almuzzaini B,Abbas S,Tanveer A,Khan A,Siddiqi S,Foo JN,Ahmad F,Khan F,Khan B,Anees M,Mäkitie O,Alfadhel M,Ahmad W,Umair M

    更新日期:2020-08-01 00:00:00

  • Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

    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

    authors: Jeffries L,Olivieri JE,Ji W,Spencer-Manzon M,Bale A,Konstantino M,Lakhani SA

    更新日期:2019-09-01 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

  • 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

  • Humanity and human DNA.

    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

    authors: Mattei JF

    更新日期:2012-10-01 00:00:00

  • Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.

    abstract::Kabuki syndrome is mainly caused by dominant de-novo pathogenic variants in the KMT2D and KDM6A genes. The clinical features of this syndrome are highly variable, making the diagnosis of Kabuki-like phenotypes difficult, even for experienced clinical geneticists. Herein we present molecular genetic findings of causal ...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.01.005

    authors: Paderova J,Drabova J,Holubova A,Vlckova M,Havlovicova M,Gregorova A,Pourova R,Romankova V,Moslerova V,Geryk J,Norambuena P,Krulisova V,Krepelova A,Macek M Sr,Macek M Jr

    更新日期:2018-06-01 00:00:00

  • Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

    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

    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

  • Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale.

    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

    authors: Grant PE,Pampaka M,Payne K,Clarke A,McAllister M

    更新日期:2019-05-01 00:00:00

  • Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

    abstract::Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China, and prenatal diagnosis has not been performed so far. In this report, 8 patients (4 girls and 4 boys) with MSUD fr...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2015.10.002

    authors: Li X,Ding Y,Liu Y,Ma Y,Song J,Wang Q,Li M,Qin Y,Yang Y

    更新日期:2015-11-01 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

  • 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

  • Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.

    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

    authors: Sarajlija A,Djordjevic M,Kecman B,Skakic A,Pavlovic S,Pasic S,Stojiljkovic M

    更新日期:2020-03-01 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