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oral facial digital syndrome

Sheena Sharma, Jennifer M Kalish, Ethan M Goldberg, Francis Jeshira Reynoso, Madhura Pradhan
Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1) gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15-50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys. This condition almost always causes intrauterine lethality in males. Description of Case Diagnosis and Treatment. A Caucasian male aged 9 years and 9 months presented with increased urinary frequency, increased thirst, and decreased appetite...
2016: Case Reports in Nephrology
Glen R Monroe, Isabelle Fpm Kappen, Marijn F Stokman, Paulien A Terhal, Marie-José H van den Boogaard, Sanne Mc Savelberg, Lars T van der Veken, Robert Jj van Es, Susanne M Lens, Rutger C Hengeveld, Marijn A Creton, Nard G Janssen, Aebele B Mink van der Molen, Michelle B Ebbeling, Rachel H Giles, Nine V Knoers, Gijs van Haaften
The oral-facial-digital (OFD) syndromes comprise a group of related disorders with a combination of oral, facial and digital anomalies. Variants in several ciliary genes have been associated with subtypes of OFD syndrome, yet in most OFD patients the underlying cause remains unknown. We investigated the molecular basis of disease in two brothers with OFD type II, Mohr syndrome, by performing single-nucleotide polymorphism (SNP)-array analysis on the brothers and their healthy parents to identify homozygous regions and candidate genes...
August 17, 2016: European Journal of Human Genetics: EJHG
Hirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, Hiroshi Shirozu, Hiroshi Masuda, Jun Tohyama, Mitsuhiro Kato, Mitsuko Nakashima, Yoshinori Tsurusaki, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Shigeki Kameyama, Naomichi Matsumoto
OBJECTIVE: Hypothalamic hamartoma (HH) is a congenital anomalous brain tumor. Although most HHs are found without any other systemic features, HH is observed in syndromic disorders such as Pallister-Hall syndrome (PHS) and oral-facial-digital syndrome (OFD). Here, we explore the possible involvement of somatic mutations in HH. METHODS: We analyzed paired blood and hamartoma samples from 18 individuals, including three with digital anomalies, by whole-exome sequencing...
May 2016: Annals of Clinical and Translational Neurology
Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-Gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria Valente
BACKGROUND: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectrum of the CEP120 gene. METHODS: Exome sequencing was performed in 145 patients with Joubert syndrome (JS), including 15 children with oral-facial-digital syndrome type VI (OFDVI) and 21 Meckel syndrome (MKS) fetuses...
September 2016: Journal of Medical Genetics
Brunella Franco, Christel Thauvin-Robinet
Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional signs may involve brain, kidneys and other organs thus better defining the different clinical subtypes. With the exception of OFD types I and VIII, which are X-linked, the majority of OFDS is transmitted as an autosomal recessive syndrome. A number of genes have already found to be mutated in OFDS and most of the encoded proteins are predicted or proven to be involved in primary cilia/basal body function...
2016: Cilia
Ingrid M Wentzensen, Jennifer J Johnston, John H Patton, John M Graham, Julie C Sapp, Leslie G Biesecker
Orofaciodigital syndrome type 1 or oral-facial-digital syndrome type 1 (OFDS1, OMIM #311200) is an X-linked malformation syndrome caused by hemizygous mutations in the OFD1 (OMIM #300170) gene with presumed male lethality. Recently males with OFDS1 and mutations in OFD1 have been described. We report a 17-year-old male with molar tooth sign, small cerebellum with absence of the cerebellar vermis, complex polydactyly with a Y-shaped metacarpal, renal failure and craniofacial anomalies caused by a novel splice-mutation (c...
2016: Human Genome Variation
J Thevenon, L Duplomb, S Phadke, T Eguether, A Saunier, M Avila, V Carmignac, A-L Bruel, J St-Onge, Y Duffourd, G J Pazour, B Franco, T Attie-Bitach, A Masurel-Paulet, J-B Rivière, V Cormier-Daire, C Philippe, L Faivre, C Thauvin-Robinet
The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease-causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique consanguineous family presenting with an unclassified OFDS with skeletal dysplasia and brachymesophalangia was explored. Homozygosity mapping and exome sequencing led to the identification of a homozygous mutation in IFT57, which encodes a protein implicated in ciliary transport...
April 7, 2016: Clinical Genetics
Divya G Moodalbail, Leah Z Apple, Kevin E Meyers, Jill P Ginsberg, Bernard S Kaplan, Richard Bellah
Cystic kidney disease includes a wide range of hereditary, developmental, and acquired conditions of the kidneys. Some of the inherited causes of cystic kidney disease include autosomal dominant polycystic kidney diseases (caused by mutations in PKD1 or PKD2), autosomal recessive polycystic kidney disease, tuberous sclerosis complex, von Hippel-Lindau disease, oral-facial-digital syndrome type I, and Hadju-Cheney syndrome. Acquired cystic kidney disease has been reported in patients receiving long-term hemodialysis or peritoneal dialysis and in children after liver transplantation...
July 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Chunmei Li, Victor L Jensen, Kwangjin Park, Julie Kennedy, Francesc R Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F Reiter, Oliver E Blacque, Enza Maria Valente, Michel R Leroux
Cilia have a unique diffusion barrier ("gate") within their proximal region, termed transition zone (TZ), that compartmentalises signalling proteins within the organelle. The TZ is known to harbour two functional modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defined by genetic interaction, interdependent protein localisation (hierarchy), and proteomic studies. However, the composition and molecular organisation of these modules and their links to human ciliary disease are not completely understood...
March 2016: PLoS Biology
Véronique Chevrier, Ange-Line Bruel, Teunis J P Van Dam, Brunella Franco, Melissa Lo Scalzo, Frédérique Lembo, Stéphane Audebert, Emilie Baudelet, Daniel Isnardon, Angélique Bole, Jean-Paul Borg, Paul Kuentz, Julien Thevenon, Lydie Burglen, Laurence Faivre, Jean-Baptiste Rivière, Martijn A Huynen, Daniel Birnbaum, Olivier Rosnet, Christel Thauvin-Robinet
Oral-facial-digital (OFD) syndromes are rare heterogeneous disorders characterized by the association of abnormalities of the face, the oral cavity and the extremities, some due to mutations in proteins of the transition zone of the primary cilia or the closely associated distal end of centrioles. These two structures are essential for the formation of functional cilia, and for signaling events during development. We report here causal compound heterozygous mutations of KIAA0753/OFIP in a patient with an OFD VI syndrome...
February 1, 2016: Human Molecular Genetics
A Havle, S Shedge, S Malashetti, V Jain
We present a case of oro-facial-digital syndrome type II (Mohr's syndrome) which is characterized by malformations of the oral cavity, face and digits. The facial and oral features include tongue nodules, cleft or high-arched palate, missing teeth, broad nose; cleft lip. The digital features include clinodactyly, polydactyly, syndactyly, brachydactyly and duplication of the hallux.
May 2015: Journal of Oral and Maxillofacial Pathology: JOMFP
Elizabeth N Schock, Ching-Fang Chang, Ingrid A Youngworth, Megan G Davey, Mary E Delany, Samantha A Brugmann
The chicken has been a particularly useful model for the study of craniofacial development and disease for over a century due to their relatively large size, accessibility, and amenability for classical bead implantation and transplant experiments. Several naturally occurring mutant lines with craniofacial anomalies also exist and have been heavily utilized by developmental biologist for several decades. Two of the most well known lines, talpid(2) (ta(2)) and talpid(3) (ta(3)), represent the first spontaneous mutants to have the causative genes identified...
July 15, 2016: Developmental Biology
Nils J Lambacher, Ange-Line Bruel, Teunis J P van Dam, Katarzyna Szymańska, Gisela G Slaats, Stefanie Kuhns, Gavin J McManus, Julie E Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Burglen, Diane Doummar, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H Giles, Colin A Johnson, Martijn A Huynen, Christel Thauvin-Robinet, Oliver E Blacque
The transition zone (TZ) ciliary subcompartment is thought to control cilium composition and signalling by facilitating a protein diffusion barrier at the ciliary base. TZ defects cause ciliopathies such as Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP) and Joubert syndrome (JBTS). However, the molecular composition and mechanisms underpinning TZ organization and barrier regulation are poorly understood. To uncover candidate TZ genes, we employed bioinformatics (coexpression and co-evolution) and identified TMEM107 as a TZ protein mutated in oral-facial-digital syndrome and JBTS patients...
January 2016: Nature Cell Biology
Aiyesha Wahaj, Imtiaz Ahmed
OBJECTIVE: To determine the mean difference of arch dimensions (both intercanine and intermolar width) between cleft lip palate and normal class I occlusion group. STUDY DESIGN: Cross-sectional analytic study. PLACE AND DURATION OF STUDY: Dr. Ishrat-ul-Ebad Khan Institute of Oral Health Sciences, [Dow University of Health Sciences (DUHS)], Karachi, from March 2012 to April 2013. METHODOLOGY: Group 1 consisted of 32 subjects with complete repaired, non-syndromic unilateral and bilateral cleft lip palate...
November 2015: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Renata F Fonseca, Flávia M de Carvalho, Fernando A Poletta, David Montaner, Joaquin Dopazo, Juan C Mereb, Miguel A M Moreira, Hector N Seuanez, Alexandre R Vieira, Eduardo E Castilla, Iêda M Orioli
The etiology of cleft lip with or without cleft palate (CL±P) is complex and heterogeneous, and multiple genetic and environmental factors are involved. Some candidate genes reported to be associated with oral clefts are located on the X chromosome. At least three genes causing X-linked syndromes [midline 1 (MID1), oral-facial-digital syndrome 1 (OFD1), and dystrophin (DMD)] were previously found to be associated with isolated CL±P. We attempted to confirm the role of X-linked genes in the etiology of isolated CL±P in a South American population through a family-based genome-wide scan...
September 1, 2015: European Journal of Oral Sciences
N Chhabra, A Chhabra, S Tandon
Varadi-Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare, autosomal recessive disorder characterised by a specific congenital malformation of the cerebellum and a broad spectrum of other phenotypic findings. It is distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Treatment for such patients is often considered challenging due to the presence of intellectual disability, hypotonia, and abnormal respiratory pattern in these patients...
February 2016: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
Christina L Alamillo, Zöe Powis, Kelly Farwell, Layla Shahmirzadi, Elaine C Weltmer, John Turocy, Thomas Lowe, Christine Kobelka, Emily Chen, Donald Basel, Elena Ashkinadze, Lisa D'Augelli, Elizabeth Chao, Sha Tang
OBJECTIVE: Exome sequencing is a successful option for diagnosing individuals with previously uncharacterized genetic conditions, however little has been reported regarding its utility in a prenatal setting. The goal of this study is to describe the results from a cohort of fetuses for which exome sequencing was performed. METHODS: We performed a retrospective analysis of the first seven cases referred to our laboratory for exome sequencing following fetal demise or termination of pregnancy...
November 2015: Prenatal Diagnosis
Elizabeth N Schock, Ching-Fang Chang, Jaime N Struve, Ya-Ting Chang, Julie Chang, Mary E Delany, Samantha A Brugmann
Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects. In addition, these individuals have several other characteristic abnormalities that are typical of a ciliopathy, including polysyndactyly, polycystic kidneys and hypoplasia of the cerebellum. Recently, a subset of OFD cases in humans has been linked to mutations in the centriolar protein C2 Ca(2+)-dependent domain-containing 3 (C2CD3)...
August 1, 2015: Disease Models & Mechanisms
Yavuz Bayram, Hatip Aydin, Tomasz Gambin, Zeynep Coban Akdemir, Mehmed M Atik, Ender Karaca, Ali Karaman, Davut Pehlivan, Shalini N Jhangiani, Richard A Gibbs, James R Lupski
Oral-facial-digital syndrome type VI (OFDVI) is a rare ciliopathy in the spectrum of Joubert syndrome (JS) and distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by a molar tooth sign on cranial MRI. Additional characteristic features include short stature, micrognathia, posteriorly rotated low-set ears, hypertelorism, epicanthal folds, broad nasal tip, tongue hamartoma, upper lip notch, intraoral frenula, cleft lip/palate, and renal anomalies. Recently, novel mutations in C5orf42 were identified in 9 out of 11 OFDVI families...
September 2015: American Journal of Medical Genetics. Part A
Mohammad M Al-Qattan, K Javed
BACKGROUND: It is well known that the incidence of nonsyndromal cleft lip and palate varies greatly according to ancestry: 0.3 to 0.4 per 1000 live births in blacks, one in 1000 in Caucasians, and two in 1000 in Asians and individuals from the central province of Saudi Arabia. Median cleft lip is a variable feature in oral-facial-digital syndrome type I (OFD-I). OBJECTIVE: To test the hypothesis that genetic factors may determine the lip phenotype in OFD-I patients...
2014: Plastic Surgery
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