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Ciliopathy

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https://www.readbyqxmd.com/read/29138412/novel-kiaa0753-mutations-extend-the-phenotype-of-skeletal-ciliopathies
#1
A Hammarsjö, Z Wang, R Vaz, F Taylan, M Sedghi, K M Girisha, D Chitayat, K Neethukrishna, P Shannon, R Godoy, K Gowrishankar, A Lindstrand, J Nasiri, M Baktashian, P T Newton, L Guo, W Hofmeister, M Pettersson, A S Chagin, G Nishimura, L Yan, N Matsumoto, A Nordgren, N Miyake, G Grigelioniene, S Ikegawa
The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#2
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#3
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29127258/homozygous-mutation-in-cep19-a-gene-mutated-in-morbid-obesity-in-bardet-biedl-syndrome-with-predominant-postaxial-polydactyly
#4
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver...
November 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29126234/bardet-biedl-syndrome-8-bbs8-protein-is-crucial-for-the-development-of-outer-segments-in-photoreceptor-neurons
#5
Tanya L Dilan, Ratnesh K Singh, Thamaraiselvi Saravanan, Abigail Moye, Andrew F X Goldberg, Peter Stoilov, Visvanathan Ramamurthy
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by developmental abnormalities and vision loss. To date, mutations in 21 genes have been linked to BBS. The products of eight of these BBS genes form a stable octameric complex termed the BBSome. Mutations in BBS8, a component of the BBSome, cause early vision loss, but the role of BBS8 in supporting vision is not known. To understand the mechanisms by which BBS8 supports rod and cone photoreceptor function, we generated animal models lacking BBS8...
November 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29121203/functional-characterization-of-tektin-1-in-motile-cilia-and-evidence-for-tekt1-as-a-new-candidate-gene-for-motile-ciliopathies
#6
Rebecca Ryan, Marion Failler, Madeline Louise Reilly, Meriem Garfa-Traore, Marion Delous, Emilie Filhol, Thérèse Reboul, Christine Bole-Feysot, Patrick Nitschké, Véronique Baudouin, Serge Amselem, Estelle Escudier, Marie Legendre, Alexandre Benmerah, Sophie Saunier
A child presenting with Mainzer-Saldino syndrome (MZSDS), characterized by renal, retinal and skeletal involvements, was also diagnosed with lung infections and airway ciliary dyskinesia. These manifestations suggested dysfunction of both primary and motile cilia, respectively. Targeted exome sequencing identified biallelic mutations in WDR19, encoding an IFT-A subunit previously associated with MZSDS-related chondrodysplasia, Jeune asphyxiating thoracic dysplasia and cranioectodermal dysplasia, linked to primary cilia dysfunction, and in TEKT1 which encodes tektin-1 an uncharacterized member of the tektin family, mutations of which may cause ciliary dyskinesia...
November 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29112083/characteristics-of-liver-disease-in-100-individuals-with-joubert-syndrome-prospectively-evaluated-at-a-single-center
#7
Anna Strongin, Theo Heller, Dan Doherty, Ian A Glass, Melissa A Parisi, Joy Bryant, Peter Choyke, Baris Turkbey, Kailash Daryanani, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, May C Malicdan, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
BACKGROUND & AIMS: Joubert Syndrome (JS) is a rare, inherited, ciliopathy defined by cerebellar and brainstem malformations and is variably associated with liver, kidney, and ocular dysfunction. This study characterizes the hepatic findings in JS and identifies factors associated with probable portal hypertension. METHODS: 100 individuals with JS were prospectively evaluated at the National Institutes of Health Clinical Center. Laboratory tests, imaging, and DNA sequencing were performed...
November 3, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29106859/sleep-disordered-breathing-in-bardet-biedl-syndrome
#8
Jeffrey C Yeung, Umakanth A Katwa, Gi Soo Lee
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is an autosomal recessive ciliopathy, and obesity is among its defining characteristics. Consequently, the incidence of sleep disordered breathing (SDB) in this population is expected to be high. Due to its relative rarity, the nature of SDB in this population is poorly described. The objective of this study was to review a single institutional experience in the assessment and management of SDB in patients with BBS. METHODS: Retrospective chart review of tertiary care, academic pediatric hospital...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29090363/calcium-axonemal-microtubuli-interactions-underlie-mechanism-s-of-primary-cilia-morphological-changes
#9
Vlado A Buljan, Manuel B Graeber, R M Damian Holsinger, Daniel Brown, Brett D Hambly, Edward J Delikatny, Vladimira R Vuletic, Xavier N Krebs, Ilijan B Tomas, John J Bohorquez-Florez, Guo Jun Liu, Richard B Banati
We have used cell culture of astrocytes aligned within microchannels to investigate calcium effects on primary cilia morphology. In the absence of calcium and in the presence of flow of media (10 μL.s(-1)) the majority (90%) of primary cilia showed reversible bending with an average curvature of 2.1 ± 0.9 × 10(-4) nm(-1). When 1.0 mM calcium was present, 90% of cilia underwent bending. Forty percent of these cilia demonstrated strong irreversible bending, resulting in a final average curvature of 3...
October 31, 2017: Journal of Biological Physics
https://www.readbyqxmd.com/read/29076289/orthotopic-liver-transplantation-for-sensenbrenner-syndrome
#10
Ruth Linda Ackah, Dor Yoeli, Michael Kueht, Nhu Thao Nguyen Galván, Ronald Timothy Cotton, Abbas Rana, Christine Ann O'Mahony, John Alan Goss
Sensenbrenner syndrome, or cranioectodermal dysplasia, is a rare heterogeneic autosomal recessive disorder, affecting ~1 of 1 000 000 live births. The syndrome usually manifests within the first year of life and can present with progressive liver and renal involvement. For all Sensenbrenner patients, renal and liver diseases are the main contributors of morbidity and mortality. In this report, we present the case of a 7-year-old boy with congenital liver disease progressing to liver failure secondary to Sensenbrenner syndrome...
October 26, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/29072526/rab-gtpases-in-cilium-formation-and-function
#11
Oliver E Blacque, Noemie Scheidel, Stefanie Kuhns
Cilia are microtubule-based organelles extending from a basal body at the surface of eukaryotic cells. Cilia regulate cell and fluid motility, sensation and developmental signaling, and ciliary defects cause human diseases (ciliopathies) affecting the formation and function of many tissues and organs. Over the past decade, various Rab and Rab-like membrane trafficking proteins have been shown to regulate cilia-related processes such as basal body maturation, ciliary axoneme extension, intraflagellar transport and ciliary signaling...
October 26, 2017: Small GTPases
https://www.readbyqxmd.com/read/29068549/expanding-the-genetic-architecture-and-phenotypic-spectrum-in-the-skeletal-ciliopathies
#12
Wenjuan Zhang, S Paige Taylor, Hayley A Ennis, Kimberly N Forlenza, Ivan Duran, Bing Li, Jorge A Ortiz Sanchez, Lisette Nevarez, Deborah A Nickerson, Michael Bamshad, Ralph S Lachman, Deborah Krakow, Daniel H Cohn
Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis van Creveld (EVC) syndrome and cranioectodermal dysplasia (CED) phenotypes...
October 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/29049287/bbsome-function-is-required-for-both-the-morphogenesis-and-maintenance-of-the-photoreceptor-outer-segment
#13
Ying Hsu, Janelle E Garrison, Gunhee Kim, Addison R Schmitz, Charles C Searby, Qihong Zhang, Poppy Datta, Darryl Y Nishimura, Seongjin Seo, Val C Sheffield
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29040558/constitutively-active-fgfr3-disrupts-primary-cilium-length-and-ift20-trafficking-in-various-chondrocyte-models-of-achondroplasia
#14
Ludovic Martin, Nabil Kaci, Valentin Estibals, Nicolas Goudin, Meriem Garfa-Traore, Catherine Benoist-Lasselin, Emilie Dambroise, Laurence Legeai-Mallet
FGFR3 (fibroblast growth factor receptor 3) gain-of-function mutations cause dwarfisms, including achondroplasia (ACH) and thanatophoric dysplasia (TD). The constitutive activation of FGFR3 disrupts the normal process of skeletal growth. Bone-growth anomalies have been identified in skeletal ciliopathies, in which primary cilia (PC) function is disrupted. In human ACH and TD, the impact of FGFR3 mutations on PC in growth plate cartilage remains unknown. Here we showed that in chondrocytes from human (ACH, TD) and mouse Fgfr3Y367C/+ cartilage, the constitutively-active FGFR3 perturbed PC length and the sorting and trafficking of IFT20 to the PC...
October 4, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29030052/primary-cilia-in-brain-development-and-diseases
#15
REVIEW
Yong H Youn, Young-Goo Han
The primary cilium, a sensory appendage that is present in most mammalian cells, plays critical roles in signaling pathways and cell cycle progression. Mutations that affect the structure or function of primary cilia result in ciliopathies, a group of developmental and degenerative diseases that affect almost all organs and tissues. Our understanding of the constituents, development, and function of primary cilia has advanced considerably in recent years, revealing pathogenic mechanisms that potentially underlie ciliopathies...
October 10, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29021280/primary-cilium-formation-and-ciliary-protein-trafficking-is-regulated-by-the-atypical-map-kinase-mapk15-in-caenorhabditis-elegans%C3%A2-and-human-cells
#16
Anna Kazatskaya, Stefanie Kuhns, Nils J Lambacher, Julie E Kennedy, Andrea G Brear, Gavin J McManus, Piali Sengupta, Oliver E Blacque
Motile and immotile (or primary) cilia are microtubule-based structures that mediate multiple cellular functions including transduction of environmental cues, developmental signaling, cellular motility, and modulation of fluid flow. Although their core architectures are similar, motile and primary cilia exhibit marked structural differences that underlie distinct functional properties. However, the extent to which ciliogenesis mechanisms are shared between these different cilia types is not fully described...
October 11, 2017: Genetics
https://www.readbyqxmd.com/read/28973549/a-human-patient-derived-cellular-model-of-joubert-syndrome-reveals-ciliary-defects-which-can-be-rescued-with-targeted-therapies
#17
Shalabh Srivastava, Simon A Ramsbottom, Elisa Molinari, Sumaya Alkanderi, Andrew Filby, Kathryn White, Charline Henry, Sophie Saunier, Colin G Miles, John A Sayer
Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multi-system phenotypes, including a cerebello-retinal-renal syndrome. JBTS is genetically heterogeneous, however mutations in CEP290 are a common underlying cause. The renal manifestation of JBTS is a juvenile-onset cystic kidney disease, known as nephronophthisis, typically progressing to end-stage renal failure within the first two decades of life, thus providing a potential window for therapeutic intervention...
September 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28965847/hypomorphic-recessive-variants-in-sufu-impair-the-sonic-hedgehog-pathway-and-cause-joubert-syndrome-with-cranio-facial-and-skeletal-defects
#18
Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B Dobyns, Tommaso Mazza, Joseph G Gleeson, Enza Maria Valente
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28964737/intraflagellar-transporter-protein-ift27-an-ift25-binding-partner-is-essential-for-male-fertility-and-spermiogenesis-in-mice
#19
Yong Zhang, Hong Liu, Wei Li, Zhengang Zhang, Xuejun Shang, David Zhang, Yuhong Li, Shiyang Zhang, Junpin Liu, Rex A Hess, Gregory J Pazour, Zhibing Zhang
Intraflagellar transport (IFT) is an evolutionarily conserved mechanism essential for the assembly and maintenance of most eukaryotic cilia and flagella. In mice, mutations in IFT proteins have been shown to cause several ciliopathies including retinal degeneration, polycystic kidney disease, and hearing loss. However, little is known about its role in the formation of the sperm tail, which has the longest flagella of mammalian cells. IFT27 is a component of IFT-B complex and binds to IFT25 directly. In mice, IFT27 is highly expressed in the testis...
September 28, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28963828/-patho-physiology-of-renal-dysfunction-in-bardet-biedl-syndrome
#20
REVIEW
Enrica Zona, Miriam Zacchia, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Giovambattista Capasso
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder with renal and extra-renal involvement. The wide spectrum of clinical manifestations is associated to the high genetic heterogeneity. To date 21 genes have been identified in humans and the majority of them encode proteins located on the basal body of the primary cilium. For this reason the disease is has been included among the 'ciliopathies'. The renal involvement is extremely heterogeneous in BBS and is considered the main cause of morbidity and mortality...
September 28, 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
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