当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.

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 development, belong to signalling pathways and have morphogenesis regulatory functions in morphogenesis of other organs where they are associated with the signalling pathways. Their mutations often show pleïotropic effects beyond dental morphogenesis resulting in syndromic developmental disorders. Some genes affecting early tooth development (MSX1, AXIN2) are associated with tooth agenesis and systemic features (cleft palate, colorectal cancer). By contrast, genes involved in enamel (AMELX, ENAM, MMP20, and KLK4) and dentin (DSPP) structures are highly specific for tooth. Mutations in these genes have been identified as causes of amelogenesis imperfecta, dentinogenesis imperfecta, dentin dysplasias and anomalies of teeth number (hypo-, oligo and anodontia), which only partially overlap with the classical phenotypic classifications of dental disorders. This review of genetic basis of inherited anomalies describes, in this first paper, the molecular bases and clinical features of inherited non-syndromic teeth disorders. And in a second part, the review focus on genetic syndromes with dental involvement.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

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

doi

10.1016/j.ejmg.2008.02.009

subject

Has Abstract

pub_date

2008-07-01 00:00:00

pages

273-91

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(08)00042-6

journal_volume

51

pub_type

杂志文章,评审

相关文献

European Journal of Medical Genetics文献大全
  • Split hand/foot malformation associated with 20p12.1 deletion: A case report.

    abstract：:Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated mal...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103805

    authors： Ruaud L,Flöttmann R,Spielmann M,Escande F,Van Maldergem L,Mundlos S,Piard J

    更新日期：2020-04-01 00:00:00

  • Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.

    abstract：:Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five health...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.11.003

    authors： Langdahl JH,Frederiksen AL,Nguyen N,Brusgaard K,Juhl CB

    更新日期：2017-02-01 00:00:00

  • A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations.

    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

    authors： Al Ghamdi MA,Al-Qattan MM,Hadadi A,Alabdulrahman A,Almuzzaini B,Alatwi N,AlBalwi MA

    更新日期：2020-03-01 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

  • MAPH: from gels to microarrays.

    abstract：:The development of accurate and sensitive methodologies to detect small chromosomal imbalances (<3 Mb) is extremely important in clinical diagnostics and research in human genetics. The technique of array-comparative genomic hybridization (CGH) using BAC and PAC clones is very sensitive methodology and is rapidly beco...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2005.04.011

    authors： Patsalis PC,Kousoulidou L,Sismani C,Männik K,Kurg A

    更新日期：2005-07-01 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

  • Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.

    abstract：:The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600 Kb Xp22.31 microdupl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.06.010

    authors： Qiao Y,Bagheri H,Tang F,Badduke C,Martell S,Lewis SME,Robinson W,Connolly MB,Arbour L,Rajcan-Separovic E

    更新日期：2019-02-01 00:00:00

  • Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

    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

    authors： Chaabouni M,Martinovic J,Sanlaville D,Attié-Bittach T,Caillat S,Turleau C,Vekemans M,Morichon N

    更新日期：2006-11-01 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

  • 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

  • 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

  • BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.

    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

    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

  • RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.12.001

    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

  • Identification of a novel CTR9 germline mutation in a family with Wilms tumor.

    abstract：:Germline mutations in the WT1 gene have been identified in some families with Wilms tumor. Recently, the CTR9 gene was found to be mutated in three families with Wilms tumor, thus representing a novel predisposition gene for this disease. We identified a family with a history of Wilms tumor characterized by three affe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.12.010

    authors： Martins AG,Pinto AT,Domingues R,Cavaco BM

    更新日期：2018-05-01 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

  • 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

  • Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.12.010

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

    更新日期：2015-03-01 00:00:00

  • Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.

    abstract：:De novo loss of function (LOF) mutations in the ASXL3 gene cause Bainbridge-Ropers syndrome, a severe form of intellectual disability (ID) and developmental delay, but there is evidence that they also occur in healthy individuals. This has prompted us to look for non-pathogenic LOF variants in other ID genes. Heterozy...

    journal_title：European journal of medical genetics

    pub_type： 信件

    doi：10.1016/j.ejmg.2015.10.007

    authors： Ropers HH,Wienker T

    更新日期：2015-12-01 00:00:00

  • No mutations detected in the INSR gene in a chromosome 19p13 linked migraine pedigree.

    abstract：:The aim of this study was to investigate through direct sequencing the insulin receptor (INSR) gene in DNA samples from a migraine affected family previously showing linkage to chromosome 19p13 in an attempt to detect disease associated mutations. Migraine is a common debilitating disorder with a significant genetic c...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.01.015

    authors： Curtain R,Tajouri L,Lea R,MacMillan J,Griffiths L

    更新日期：2006-01-01 00:00:00

  • Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.

    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

    authors： Yi Z,Pan H,Li L,Wu H,Wang S,Ma Y,Qi Y

    更新日期：2016-06-01 00:00:00

  • Genetic polymorphisms in the DNA repair gene, XRCC1 associate with non-Hodgkin lymphoma susceptibility: A systematic review and meta-analysis.

    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

    authors： Li Y,Bai O,Cui J,Li W

    更新日期：2016-02-01 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

  • Gastrointestinal problems in 15q duplication syndrome.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.12.012

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

    更新日期：2015-03-01 00:00:00

  • 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

  • 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

  • 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

  • Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.

    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

    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

  • Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

    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

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2013.08.004

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

    更新日期：2013-10-01 00:00:00

  • A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.09.001

    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

  • 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