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bardet biedl syndrom

Erika Tavares, Chen Yu Tang, Anjali Vig, Shuning Li, Gail Billingsley, Wilson Sung, Ajoy Vincent, Bhooma Thiruvahindrapuram, Elise Héon
BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive pleiotropic disorder of the primary cilia that leads to severe visual loss in the teenage years. Approximately 80% of BBS cases are explained by mutations in one of the 21 identified genes. Documented causative mutation types include missense, nonsense, copy number variation (CNV), frameshift deletions or insertions, and splicing variants. METHODS: Whole genome sequencing was performed on a patient affected with BBS for whom no mutations were identified using clinically approved genetic testing of the known genes...
November 28, 2018: Molecular Genetics & Genomic Medicine
Sarita Rani Patnaik, Viola Kretschmer, Lena Brücker, Sandra Schneider, Ann-Kathrin Volz, Liliana Del Rocio Oancea-Castillo, Helen Louise May-Simera
Primary cilia are conserved organelles that mediate cellular communication crucial for organogenesis and homeostasis in numerous tissues. The retinal pigment epithelium (RPE) is a ciliated monolayer in the eye that borders the retina and is vital for visual function. Maturation of the RPE is absolutely critical for visual function and the role of the primary cilium in this process has been largely ignored to date. We show that primary cilia are transiently present during RPE development and that as the RPE matures, primary cilia retract, and gene expression of ciliary disassembly components decline...
November 16, 2018: Cellular and Molecular Life Sciences: CMLS
Qun Wei, Yi-Feng Gu, Qing-Jun Zhang, Helena Yu, Yan Peng, Kevin W Williams, Ruitao Wang, Kajiang Yu, Tiemin Liu, Zhi-Ping Liu
Leptin receptor (LepRb) signaling pathway in the hypothalamus of the forebrain controls food intake and energy expenditure in response to an altered energy state. Defects in the LepRb signaling pathway can result in leptin-resistance and obesity. Leucine zipper transcription factor like 1 (Lztfl1)/BBS17 is a member of the Bardet-Biedl syndrome (BBS) gene family. Human BBS patients have a wide range of pathologies including obesity. The cellular and molecular mechanisms underlying Lztfl1-regulated obesity are unknown...
October 1, 2018: Journal of Molecular Cell Biology
Nana Sakakibara, Naoya Morisada, Kandai Nozu, Koji Nagatani, Toshiyuki Ohta, Junya Shimizu, Takuzo Wada, Yuko Shima, Tomohiko Yamamura, Shogo Minamikawa, Junya Fujimura, Tomoko Horinouchi, China Nagano, Akemi Shono, Ming Juan Ye, Yoshimi Nozu, Koichi Nakanishi, Kazumoto Iijima
Oral-facial-digital syndrome type 1 (OFD1) is a ciliopathy characterized by oral, facial, and digital malformations that are often accompanied by polycystic lesion of the kidney and central nervous involvement. OFD1 shows an X-linked recessive inheritance caused by mutation in the OFD1 gene (Xp22.2). The disease is generally considered embryonic lethal for hemizygous males. However, males with OFD1 mutations were recently reported. Here, we report four additional Japanese male patients with OFD1 variants and describe the variable clinical manifestation and disease severity among the four patients...
November 6, 2018: Journal of Human Genetics
Luz Yaqueline Ladino, Johanna Galvis, Diana Yasnó, Adriana Ramírez, Orietta Ivonne Beltrán
The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The multisystemic features of the disease include ocular, renal, cognitive, skeletal, as well as gonadal involvement and obesity, among others, with high inter- and intrafamilial variability. We describe the clinical case of an adolescent male patient with Bardet-Biedl syndrome, including the approach, the results from a 22-gene sequencing panel, and the analysis of updated scientific literature...
September 1, 2018: Biomédica: Revista del Instituto Nacional de Salud
Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Bardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded by other BBS genes. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10. Resource table.
September 20, 2018: Stem Cell Research
Andrew J Olson, Anthony D Krentz, Kathleen M Finta, Uzoma C Okorie, Robert M Haws
OBJECTIVES: To characterize the diversity and prevalence of thoraco-abdominal abnormalities in Bardet-Biedl syndrome (BBS), a model ciliopathy for understanding the role of cilia in human health. STUDY DESIGN: The Clinical Registry Investigating BBS, a worldwide registry exploring the phenotype and natural history of BBS, was used to conduct the study. Protected health information was obtained by subject or family interview and Health Insurance Portability and Accountability Act-approved release of data including imaging studies and genetic testing...
October 4, 2018: Journal of Pediatrics
Jenna L Wingfield, Karl-Ferdinand Lechtreck, Esben Lorentzen
Bardet-Biedl syndrome (BBS) is a rare inherited disease caused by defects in the BBSome, an octameric complex of BBS proteins. The BBSome is conserved in most organisms with cilia, which are microtubule (MT)-based cell organelles that protrude from the cell surface and function in motility and sensing. Cilia assembly, maintenance, and function require intraflagellar transport (IFT), a bidirectional motility of multi-megadalton IFT trains propelled by molecular motors along the ciliary MTs. IFT has been shown to transport structural proteins, including tubulin, into growing cilia...
October 4, 2018: Essays in Biochemistry
Tuba Gencol, Demet Sergin, Taner Balcioglu
Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder that affects many organ systems. In cases of Bardet-Biedl syndrome, since the risk of developing inspiratory, cardiovascular, and metabolic problems is high, endotracheal intubation and anesthesia management are difficult. In this report, we present our experience in the management of anesthesia during endoscopic sinus surgery that was performed for the first time on a 6-year-old pediatric patient diagnosed with Bardet-Biedl syndrome.
September 18, 2018: A&A practice
Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with a wide range of symptoms including obesity, retinal dystrophy, polycystic kidney disease, polydactyly, hypogonadism and learning difficulties. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) KCi001-A from a BBS patient compound heterozygous for two disease causing BBS1 variants c.1169T>G, p. (Met390Arg)/c.1135G>C, p.(Gly370Arg). Resource table.
August 2018: Stem Cell Research
Qiao-Yi Li, Lv-Ying Huang, Dong-Zhi Li
No abstract text is available yet for this article.
August 3, 2018: Congenital Anomalies
Heide Schatten, Qing-Yuan Sun
Since its discovery well over 100 years ago (Flemming, in Sitzungsber Akad Wissensch Wien 71:81-147, 1875; Van Beneden, in Bull Acad R Belg 42:35-97, 1876) the centrosome is increasingly being recognized as a most impactful organelle for its role not only as primary microtubule organizing center (MTOC) but also as a major communication center for signal transduction pathways and as a center for proteolytic activities. Its significance for cell cycle regulation has been well studied and we now also know that centrosome dysfunctions are implicated in numerous diseases and disorders including cancer, Alstrom syndrome, Bardet-Biedl syndrome, Huntington's disease, reproductive disorders, and several other diseases and disorders...
October 2018: Histochemistry and Cell Biology
Isaac D Sheffield, Mercedes A McGee, Steven J Glenn, Da Young Baek, Joshua M Coleman, Bradley K Dorius, Channing Williams, Brandon J Rose, Anthony E Sanchez, Michael A Goodman, John M Daines, Dennis L Eggett, Val C Sheffield, Arminda Suli, David L Kooyman
Osteoarthritis (OA) is a debilitating inflammation related disease characterized by joint pain and effusion, loss of mobility, and deformity that may result in functional joint failure and significant impact on quality of life. Once thought of as a simple "wear and tear" disease, it is now widely recognized that OA has a considerable metabolic component and is related to chronic inflammation. Defects associated with primary cilia have been shown to be cause OA-like changes in Bardet-Biedl mice. We examined the role of dysfunctional primary cilia in OA in mice through the regulation of the previously identified degradative and pro-inflammatory molecular pathways common to OA...
2018: Frontiers in Physiology
Alia Halim, Tehreem Afzal, Sana Fatima, Sadia Riaz
McKusick-Kaufman Syndrome (MKKS) is one of rare syndromes which presents as polydactyly, hydrometrocolpos (HMC) and cardiac anomalies. This autosomal recessive disorder occurs due to mutations in MKKS gene. It is characterised predominantly by genitourinary and digit abnormalities. The diagnosis can be made on clinical findings; however, it is important to rule out Bardet-Biedl syndrome before making the definitive diagnosis. Treatment of MKKS revolves around treatment of its manifestations and complications...
June 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Sathya Priya Chandrasekar, Sheela Namboothiri, Parveen Sen, Sripriya Sarangapani
Background & objectives: Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by multiple organ defects involving retina, kidney, liver and brain. Disease-causing mutations in BBS genes narrowed down by homozygosity mapping in small consanguineous and non-consanguineous pedigrees were reported in 80 per cent of the study population. This study was aimed to screen these genes (BBS3, BBS10) and specific exons of BBS genes (BBS1, BBS5, MKKS, BBS9, BBS11 and BBS12) for recurrent mutations in a selected sample of BBS patients...
February 2018: Indian Journal of Medical Research
Joanna Kenny, Elizabeth Forsythe, Philip Beales, Chiara Bacchelli
Personalized medicine is becoming routine in the treatment of common diseases such as cancer, but has lagged behind in the field of rare diseases. It is currently in the early stages for the treatment of Bardet-Biedl syndrome. Advances in the understanding of ciliary biology and diagnostic techniques have opened up the prospect of treating BBS in a patient-specific manner. Owing to their structure and function, cilia provide an attractive therapeutic target and genetic therapies are being explored in ciliopathy treatment...
September 2017: Personalized Medicine
Chloé Quélin, Philippe Loget, Lucile Boutaud, Nadia Elkhartoufi, Joelle Milon, Sylvie Odent, Mélanie Fradin, Florence Demurger, Laurent Pasquier, Sophie Thomas, Tania Attié-Bitach
Ciliopathies comprise a group of clinically heterogeneous and overlapping disorders with a wide spectrum of phenotypes ranging from prenatal lethality to adult-onset disorders. Pathogenic variants in more than 100 ciliary protein-encoding genes have been described, most notably those involved in intraflagellar transport (IFT) which comprises two protein complexes, responsible for retrograde (IFT-A) and anterograde transport (IFT-B). Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c...
July 2018: American Journal of Medical Genetics. Part A
E Geets, M E C Meuwissen, W Van Hul
Obesity has become a major health problem worldwide. To date, more than 25 different syndromic forms of obesity are known in which one (monogenic) or multiple (polygenic) genes are involved. This review gives an overview of these forms and focuses more in detail on 6 syndromes: Prader Willi Syndrome and Prader Willi like phenotype, Bardet Biedl Syndrome, Alström Syndrome, Wilms tumor, Aniridia, Genitourinary malformations and mental Retardation syndrome and 16p11.2 (micro)deletions. Years of research provided plenty of information on the molecular genetics of these disorders and the obesity phenotype leading to a more individualized treatment of the symptoms, however, many questions still remain unanswered...
April 26, 2018: Clinical Genetics
Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, Elise Schaefer, Isabelle Perrault, Séverine Bär, Ariane Kröll, Marion Delbarre, Manuela Antin, Anne-Sophie Leuvrey, Charline Henry, Hélène Blanché, Eva Decker, Katja Kloth, Günter Klaus, Christoph Mache, Dominique Martin-Coignard, Steven McGinn, Anne Boland, Jean-François Deleuze, Sylvie Friant, Sophie Saunier, Jean-Michel Rozet, Carsten Bergmann, Hélène Dollfus, Jean Muller
Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases. Using whole-genome sequencing in patients with uncharacterized ciliopathies, we identified a novel recurrent tandem duplication of exon 27-30 (6.7 kb) in IFT140, c.3454-488_4182+2588dup p.(Tyr1152_Thr1394dup), missed by whole-exome sequencing. Pathogenicity of the mutation was assessed on the patients' skin fibroblasts...
July 2018: Human Mutation
Do Kyeong Song, Jong Han Choi, Min Seon Kim
Obesity has become a common healthcare problem worldwide. Cilia are tiny hair-like organelles on the cell surface that are generated and anchored by the basal body. Non-motile primary cilia have been considered to be evolutionary rudiments until a few decades, but they are now considered as important signaling organelles because many receptors, channels, and signaling molecules are highly expressed in primary cilia. A potential role of primary cilia in metabolic regulation and body weight maintenance has been suspected based on rare genetic disorders termed as ciliopathy, such as Bardet-Biedl syndrome and Alström syndrome, which manifest as obesity...
April 2018: Diabetes & Metabolism Journal
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