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amelogenesis imperfecta

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https://www.readbyqxmd.com/read/28298625/periodontal-disease-and-fam20a-mutations
#1
Piranit Nik Kantaputra, Chotika Bongkochwilawan, Mark Lubinsky, Supansa Pata, Massupa Kaewgahya, Huei Jinn Tong, James R Ketudat Cairns, Yeliz Guven, Nipon Chaisrisookumporn
Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28287144/mir-153-regulates-amelogenesis-by-targeting-endocytotic-and-endosomal-lysosomal-pathways-novel-insight-into-the-origins-of-enamel-pathologies
#2
Kaifeng Yin, Wenting Lin, Jing Guo, Toshihiro Sugiyama, Malcolm L Snead, Joseph G Hacia, Michael L Paine
Amelogenesis imperfecta (AI) is group of inherited disorders resulting in enamel pathologies. The involvement of epigenetic regulation in the pathogenesis of AI is yet to be clarified due to a lack of knowledge about amelogenesis. Our previous genome-wide microRNA and mRNA transcriptome analyses suggest a key role for miR-153 in endosome/lysosome-related pathways during amelogenesis. Here we show that miR-153 is significantly downregulated in maturation ameloblasts compared with secretory ameloblasts. Within ameloblast-like cells, upregulation of miR-153 results in the downregulation of its predicted targets including Cltc, Lamp1, Clcn4 and Slc4a4, and a number of miRNAs implicated in endocytotic pathways...
March 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28246031/novel-splice-site-mutation-in-cnnm4-gene-in-a-family-with-jalili-syndrome
#3
Imane Cherkaoui Jaouad, Jaber Lyahyai, Soukaina Guaoua, Mustapha El Alloussi, Abdelali Zrhidri, Yassamine Doubaj, Abdelkrim Boulanouar, Abdelaziz Sefiani
Jalili syndrome is a rare autosomal recessive genetic disease characterized by the association of amelogenesis imperfecta and cone-rod retinal dystrophy. This syndrome is caused by mutations in the CNNM4 gene. Different types of CNNM4 mutations have been reported; missense, nonsense, large deletions, single base insertion, and duplication. We used Sanger sequencing to analyze a large consanguineous family with three siblings affected with Jalili syndrome, suspected clinically after dental and ophthalmological examination...
February 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28130977/a-novel-amelx-mutation-causes-hypoplastic-amelogenesis-imperfecta
#4
Young-Jae Kim, Youn Jung Kim, Jenny Kang, Teo Jeon Shin, Hong-Keun Hyun, Sang-Hoon Lee, Zang Hee Lee, Jung-Wook Kim
OBJECTIVES: Amelogenesis imperfecta (AI) is a hereditary genetic defect affecting tooth enamel. AI is heterogeneous in clinical phenotype as well as in genetic etiology. To date, more than 10 genes have been associated with the etiology of AI. Amelogenin is the most abundant enamel matrix protein, most of which is encoded by the amelogenin gene in the X-chromosome (AMELX). More than 16 alternative splicing transcripts have been identified in the murine Amelx gene. The purpose of this study was to identify the genetic cause of an AI family...
January 12, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28086997/enamel-renal-syndrome-in-2-patients-with-a-mutation-in-fam20-a-and-atypical-hypertrichosis-and-hearing-loss-phenotypes
#5
Sabina Pena B Pêgo, Ricardo D Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Maria Teresa Auricchio, Luis Antônio Santos, Breno Rocha, Hercílio Martelli-Júnior
Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis. They also exhibited 2 undescribed clinical features, hypertrichosis and hearing loss. Alterations in genes frequently associated with nonsyndromic hearing loss in the Brazilian population, including connexin 26 (GJB2), connexin 30 (GJB6) and mitochondrial 12 S rRNA (m...
February 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/27957258/prevalence-and-distribution-of-selected-dental-anomalies-among-saudi-children-in-abha-saudi-arabia
#6
Syed M Yassin
BACKGROUND: Dental anomalies are not an unusual finding in routine dental examination. The effect of dental anomalies can lead to functional, esthetic and occlusal problems. The Purpose of the study was to determine the prevalence and distribution of selected developmental dental anomalies in Saudi children. MATERIAL AND METHODS: The study was based on clinical examination and Panoramic radiographs of children who visited the Pediatric dentistry clinics at King Khalid University College of Dentistry, Saudi Arabia...
December 2016: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/27843125/recessive-mutations-in-acpt-encoding-testicular-acid-phosphatase-cause-hypoplastic-amelogenesis-imperfecta
#7
Figen Seymen, Youn Jung Kim, Ye Ji Lee, Jenny Kang, Tak-Heun Kim, Hwajung Choi, Mine Koruyucu, Yelda Kasimoglu, Elif Bahar Tuna, Koray Gencay, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee, Zang Hee Lee, Hong Zhang, Jan C-C Hu, James P Simmer, Eui-Sic Cho, Jung-Wook Kim
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders affecting tooth enamel. The affected enamel can be hypoplastic and/or hypomineralized. In this study, we identified ACPT (testicular acid phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in individuals from six apparently unrelated Turkish families. Families 1, 4, and 5 were affected by the homozygous ACPT mutation c.713C>T (p.Ser238Leu), family 2 by the homozygous ACPT mutation c...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27827380/carriers-with-functional-null-mutations-in-lama3-have-localized-enamel-abnormalities-due-to-haploinsufficiency
#8
Katarzyna B Gostyńska, Wing Yan Yuen, Anna Maria Gerdina Pasmooij, Cornelius Stellingsma, Hendri H Pas, Henny Lemmink, Marcel F Jonkman
The hereditary blistering disease junctional epidermolysis bullosa (JEB) is always accompanied by structural enamel abnormalities of primary and secondary dentition, characterized as amelogenesis imperfecta. Autosomal recessive mutations in LAMA3, LAMB3 and LAMC2 encoding the heterotrimer laminin 332 (LM-332) are among the genes causing JEB. While examining pedigrees of JEB patients with LAMA3 mutations, we observed that heterozygous carriers of functional null mutations displayed subtle enamel pitting in the absence of skin fragility or other JEB symptoms...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27814261/noninvasive-esthetic-treatment-for-hypomaturation-amelogenesis-imperfecta-a-case-report
#9
Flávia Pardo Salata Nahsan, Luciana Mendonça da Silva, Thiago Mendes de Lima, Verônica Pereira de Lima Bertocco, Fabíola Mendonça da Silva Chui, Leandro de Moura Martins
Enamel alterations, such as amelogenesis imperfecta, can compromise the harmony of the smile and the patient's self-esteem and may cause tooth sensitivity. A simple and effective treatment approach uses the natural stratification of composite resins to mask deficient enamel formation and mimic the natural appearance of the substrate. The operative steps and principles for restorative success are described in this case report with 36-month follow-up.
November 2016: General Dentistry
https://www.readbyqxmd.com/read/27778394/use-of-new-targeted-cancer-therapies-in-children-effects-on-dental-development-and-risk-of-jaw-osteonecrosis-a-review
#10
Magali Hernandez, Bérengère Phulpin, Ludovic Mansuy, Dominique Droz
New targeted cancer therapies such as bisphosphonates, denosumab and bevacizumab are routinely used in adult for the past decades. Their introduction into pediatric medicine is more recent that means there is a paucity of data on long-term effects on dental development and on the risk of osteonecrosis of jaw. This paper aims to outline adverse effects of new targeted cancer therapies on oral cavity including dental abnormalities observed in pediatric population treated with these molecules and the risk of osteonecrosis of the jaw (ONJ)...
October 25, 2016: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27693231/mutations-in-the-ph-sensing-g-protein-coupled-receptor-gpr68-cause-amelogenesis-imperfecta
#11
David A Parry, Claire E L Smith, Walid El-Sayed, James A Poulter, Roger C Shore, Clare V Logan, Chihiro Mogi, Koichi Sato, Fumikazu Okajima, Akihiro Harada, Hong Zhang, Mine Koruyucu, Figen Seymen, Jan C-C Hu, James P Simmer, Mushtaq Ahmed, Hussain Jafri, Colin A Johnson, Chris F Inglehearn, Alan J Mighell
Amelogenesis is the process of dental enamel formation, leading to the deposition of the hardest tissue in the human body. This process requires the intricate regulation of ion transport and controlled changes to the pH of the developing enamel matrix. The means by which the enamel organ regulates pH during amelogenesis is largely unknown. We identified rare homozygous variants in GPR68 in three families with amelogenesis imperfecta, a genetically and phenotypically heterogeneous group of inherited conditions associated with abnormal enamel formation...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27667191/non-lethal-raine-syndrome-and-differential-diagnosis
#12
Siham Chafai Elalaoui, Nada Al-Sheqaih, Ilham Ratbi, Jill E Urquhart, James O'Sullivan, Sanjeev Bhaskar, Simon S Williams, Mustapha Elalloussi, Jaber Lyahyai, Leila Sbihi, Imane Cherkaoui Jaouad, Abdelhafid Sbihi, William G Newman, Abdelaziz Sefiani
Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized osteosclerosis. Amelogenesis imperfecta, hearing loss, seizures, and intracerebral calcification are apparent in some affected individuals. Originally, Raine syndrome was originally reported as a lethal syndrome. However, recently a milder phenotype, compatible with life, has been described. Biallelic variants inFAM20C, encoding aGolgi casein kinase involved in biomineralisation, have been identified in affected individuals...
November 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27633571/severe-early-onset-retinitis-pigmentosa-in-a-moroccan-patient-with-heimler-syndrome-due-to-novel-homozygous-mutation-of-pex1-gene
#13
Ilham Ratbi, Imane Cherkaoui Jaouad, Hamza Elorch, Nada Al-Sheqaih, Mustapha Elalloussi, Jaber Lyahyai, Amina Berraho, William G Newman, Abdelaziz Sefiani
Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. The patient carried a novel homozygous missense variant c...
October 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27617510/a-rare-case-epidermolysis-bullosa-in-a-child-patient-with-amelogenesis-imperfecta
#14
H Karayilmaz, Öe Güngör, S Hanimeli, B Yagmur
Epidermolysis bullosa (EB) is an inherited disorder affecting the skin and mucous membranes, characterized by blister formation following minor trauma. It is a chronic mechanobullous disease related to the specific abnormal or absent proteins. The disease is associated with conspicuous clinical and oral manifestations. The oral involvement of EB includes generalized enamel hypoplasia, dental caries, limited mouth opening, ankyloglossia, microstomia and obliteration of the vestibule. Amelogenesis imperfecta (AI) is a hereditary disorder with dental enamel defects and enamel hypoplasia both in deciduous and permanent dentition...
February 26, 2016: West Indian Medical Journal
https://www.readbyqxmd.com/read/27600704/slc13a5-is-the-second-gene-associated-with-kohlsch%C3%A3-tter-t%C3%A3-nz-syndrome
#15
Anna Schossig, Agnès Bloch-Zupan, Adrian Lussi, Nicole I Wolf, Salmo Raskin, Monika Cohen, Fabienne Giuliano, Julie Jurgens, Birgit Krabichler, David A Koolen, Nara Lygia de Macena Sobreira, Elisabeth Maurer, Michèle Muller-Bolla, Johann Penzien, Johannes Zschocke, Ines Kapferer-Seebacher
BACKGROUND: Kohlschütter-Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis imperfecta (AI). It is frequently caused by biallelic mutations in ROGDI. Here, we report on individuals with ROGDI-negative KTZS carrying biallelic SLC13A5 mutations. METHODS: In the present cohort study, nine individuals from four families with the clinical diagnosis of KTZS and absence of ROGDI mutations as well as one patient with unexplained epileptic encephalopathy were investigated by clinical and dental evaluation, parametric linkage analysis (one family), and exome and/or Sanger sequencing...
January 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27589272/management-of-amelogenesis-imperfecta-a-15-year-case-history-of-two-siblings
#16
E Dursun, E Savard, C Vargas, L Loison-Robert, H Cherifi, F Bdeoui, M-M Landru
OBJECTIVE: Amelogenesis imperfecta (AI) is a heterogenous genetic disorder that interferes with normal enamel formation in the absence of systemic disorders. The patients' main concerns are caries susceptibility, poor esthetics, and generalized sensitivity. There is a broad clinical spectrum, from discolorations to consequent enamel alterations. This case report describes the 15-year case study and the full-mouth rehabilitation of two siblings affected by a hypocalcified AI. Clinical Considerations: In these two patients, conservative care with stainless steel crowns and direct composite restorations was undertaken to restore function and esthetics and to reduce sensitivities in primary and mixed dentitions...
November 2016: Operative Dentistry
https://www.readbyqxmd.com/read/27558265/amelogenesis-imperfecta-1-family-2-phenotypes-and-2-mutated-genes
#17
M K Prasad, S Laouina, M El Alloussi, H Dollfus, A Bloch-Zupan
Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of diseases characterized by enamel defects. The authors have identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic and hypomineralized AI in different individuals within the family. Using targeted next-generation sequencing, the authors identified a novel heterozygous nonsense mutation in COL17A1 (c.1873C>T, p.R625*) segregating with hypoplastic AI and a novel homozygous 8-bp deletion in C4orf26 (c...
December 2016: Journal of Dental Research
https://www.readbyqxmd.com/read/27550338/amelogenesis-imperfecta-review-of-diagnostic-findings-and-treatment-concepts
#18
Martin M I Sabandal, Edgar Schäfer
Mineralization defects like amelogenesis imperfecta are often of hereditary origin. This article reviews the diagnostic findings and summarizes the suggested treatment approaches. Currently, there are no defined therapy recommendations available for patients suffering from amelogenesis imperfecta. The mentioned therapies are more or less equal but no comprehensive therapy recommendation is evident. When treating patients suffering from amelogenesis imperfecta, a comprehensive therapy of almost every dental discipline has to be considered...
September 2016: Odontology
https://www.readbyqxmd.com/read/27530400/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations
#19
Paulo Marcio Yamaguti, Francisco de Assis Rocha Neves, Dominique Hotton, Claire Bardet, Muriel de La Dure-Molla, Luiz Claudio Castro, Maria do Carmo Scher, Maristela Estevão Barbosa, Christophe Ditsch, Jean-Christophe Fricain, Renaud de La Faille, Marie-Lucile Figueres, Rosa Vargas-Poussou, Pascal Houiller, Catherine Chaussain, Sylvie Babajko, Ariane Berdal, Ana Carolina Acevedo
BACKGROUND: Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control the paracellular passage of calcium and magnesium. FHHNC can be linked to mutations in both genes. Claudin-16 was shown to be expressed during amelogenesis; however, no data are available on claudin-19...
January 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27419834/a-novel-mutation-and-variable-phenotypic-expression-in-a-large-consanguineous-pedigree-with-jalili-syndrome
#20
S Rahimi-Aliabadi, N Daftarian, H Ahmadieh, B Emamalizadeh, J Jamshidi, A Tafakhori, H Ghaedi, R Noroozi, S Taghavi, A Ahmadifard, E Alehabib, M Andarva, P Shokraeian, M Atakhorrami, H Darvish
PurposeJalili syndrome is an autosomal recessive disorder characterized by simultaneous appearance of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI). Mutations in CNNM4 gene have been identified as the underlying cause of the syndrome. In this study, we investigated a large affected family to identify the causative mutation.Patients and MethodsA seven-generation family with 24 members affected with Jalili syndrome were enrolled in the study. Comprehensive ophthalmologic and dental examinations were performed on them...
November 2016: Eye
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