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amelogenesis imperfecta

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
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...
September 22, 2016: European Journal of Medical Genetics
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
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
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...
September 6, 2016: Journal of Medical Genetics
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...
September 2, 2016: Operative Dentistry
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...
August 24, 2016: Journal of Dental Research
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
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...
August 16, 2016: Journal of Medical Genetics
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...
July 15, 2016: Eye
Claire E L Smith, Gina Murillo, Steven J Brookes, James A Poulter, Sandra Silva, Jennifer Kirkham, Chris F Inglehearn, Alan J Mighell
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective dental enamel formation. Amelotin (AMTN) is a secreted protein thought to act as a promoter of matrix mineralisation in the final stage of enamel development, and is strongly expressed, almost exclusively, in maturation stage ameloblasts. Amtn overexpression and Amtn knockout mouse models have defective enamel with no other associated phenotypes, highlighting AMTN as an excellent candidate gene for human AI...
July 12, 2016: Human Molecular Genetics
Ani B Belcheva, Ivan At Philipov, Georgi T Tomov
UNLABELLED: The histological features of teeth with hypocalcified amelogenesis imperfecta (AI) have been poorly studied, which calls into question the effectiveness of modern adhesive techniques used in the treatment of these noncarious defects. AIM: The aim of this study was to investigate the morphological features of the enamel and dentin of teeth with AI using scanning electron microscopy (SEM), and compare these features with those of healthy teeth. MATERIALS AND METHODS: We examined four primary teeth extracted on indication from a 10-year-old girl with hypocalcified amelogenesis imperfecta...
March 1, 2016: Folia Medica
Gunilla Pousette Lundgren, Anette Wickström, Tove Hasselblad, Göran Dahllöf
Patients with Amelogenesis imperfecta (AI) can present with rapid tooth loss or fractures of enamel as well as alterations in enamel thickness, color, and shape; factors that may compromise aesthetic appearance and masticatory function. The aim was to explore the experiences and perceptions of adolescents and young adults living with AI and receiving early prosthetic therapy. Seven patients with severe AI aged 16 to 23 years who underwent porcelain crown therapy participated in one-to-one individual interviews...
2016: PloS One
Claire E L Smith, James A Poulter, Alex V Levin, Jenina E Capasso, Susan Price, Tamar Ben-Yosef, Reuven Sharony, William G Newman, Roger C Shore, Steven J Brookes, Alan J Mighell, Chris F Inglehearn
Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects. Recently HS was shown to result from hypomorphic mutations in PEX1 or PEX6, both previously implicated in Zellweger Syndrome Spectrum Disorders (ZSSD). ZSSD are a group of conditions consisting of craniofacial and neurological abnormalities, sensory defects and multi-organ dysfunction. The finding of HS-causing mutations in PEX1 and PEX6 shows that HS represents the mild end of the ZSSD spectrum, though these conditions were previously thought to be distinct nosological entities...
June 15, 2016: European Journal of Human Genetics: EJHG
Aleksandar Bogosavljević, Vanja Misina, Jovana Jordacević, Milka Abazović, Smiljka Dukić, Ljubisa Ristić, Dragana Daković
INTRODUCTION: Restorative dental treatment of patients with a generalized form of amelogenesis imperfecta (AI) remains a challenge even today. The treatment approach is multidisciplinary and includes action of several dental disciplines such as restorative, orthodontic, and prosthetic dental specialties. CASE REPORT: A 18-year-old female patent was referred to the Department of Restorative Dentistry and Periodontology at the Military Medical Academy of Belgrade, Serbia...
March 2016: Vojnosanitetski Pregled. Military-medical and Pharmaceutical Review
Yoshio Ohyama, Ju-Hsien Lin, Nattanan Govitvattana, I-Ping Lin, Sundharamani Venkitapathi, Ahmed Alamoudi, Dina Husein, Chunying An, Hak Hotta, Masaru Kaku, Yoshiyuki Mochida
Mutations in the Family with sequence similarity (FAM) 20 gene family are associated with mineralized tissue phenotypes in humans. Among these genes, FAM20A mutations are associated with Amelogenesis Imperfecta (AI) with gingival hyperplasia and nephrocalcinosis, while FAM20C mutations cause Raine syndrome, exhibiting bone and craniofacial/dental abnormalities. Although it has been demonstrated that Raine syndrome associated-FAM20C mutants prevented FAM20C kinase activity and secretion, overexpression of the catalytically inactive D478A FAM20C mutant was detected in both cell extracts and the media...
2016: Scientific Reports
Li-Li Li, Pei-Hong Liu, Xiao-Hua Xie, Su Ma, Chao Liu, Li Chen, Chun-Lin Qin
FAM20A has been studied to a very limited extent. Mutations in human FAM20A cause amelogenesis imperfecta, gingival fibromatosis and kidney problems. It would be desirable to systemically analyse the expression of FAM20A in dental tissues and to assess the pathological changes when this molecule is specifically nullified in individual tissues. Recently, we generated mice with a Fam20A-floxed allele containing the beta-galactosidase reporter gene. We analysed FAM20A expression in dental tissues using X-Gal staining, immunohistochemistry and in situ hybridization, which showed that the ameloblasts in the mouse mandibular first molar began to express FAM20A at 1 day after birth, and the reduced enamel epithelium in erupting molars expressed a significant level of FAM20A...
2016: International Journal of Oral Science
Chiung-Fen Chen, Jan Cc Hu, Eduardo Bresciani, Mathilde C Peters, Maria Regina Estrella
Amelogenesis imperfecta (AI) is a group of inherited disorders primary affecting the structural of enamel. Patients with AI experience poor esthetic, excessive tooth sensitivity and compromised chewing function that dental treatments are frequently required at early age. This review describes the non-enamel implications, stage-specific management strategies and outcomes of selected restorative materials based on literature evidence.
2013: Brazilian Dental Science
Julia Hentschel, Dana Tatun, Dmitri Parkhomchuk, Ingo Kurth, Bettina Schimmel, Roswitha Heinrich-Weltzien, Sabine Bertzbach, Hartmut Peters, Christian Beetz
Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous disorder of tooth development which is due to aberrant deposition or composition of enamel. Both syndromic and isolated forms exist; they may be inherited in an X-linked, autosomal recessive, or autosomal dominant manner. WDR72 is one of ten currently known genes for recessive isolated AI; nine WDR72 mutations affecting single nucleotides have been described to date. Based on whole exome sequencing in a large consanguineous AI pedigree, we obtained evidence for presence of a multi-exonic WDR72 deletion...
September 15, 2016: Gene
Rudá França Moreira, Rossana Gomes Figueiredo, Henrique Eduardo Oliveira, Ana Christina Lamosa da Fonseca, Mauro Sayão de Miranda
The aim of this paper was to describe a clinical case of immediate dental desensitization using a self-etch adhesive system in an adolescent patient diagnosed with amelogenesis imperfecta (AI). AI was associated with severe tooth sensitivity, treated by the application of a universal adhesive system for desensitization of the teeth affected by AI. Reduction of tooth sensitivity was assessed using a visual analog scale during all reevaluations. The technique was effective for reducing tooth sensitivity. It was concluded that the adhesive system for tooth desensitization had an immediate effect and maintained its effectiveness during a 12-month follow-up period...
May 2016: Brazilian Dental Journal
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