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Osama Essawi, Sofie Symoens, Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert, Tamer Essawi, Bert Callewaert, Anne De Paepe, Fransiska Malfait, Paul J Coucke
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures. METHODS: We analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next-generation sequencing technology was used to screen a panel of known OI genes. RESULTS: In 41 probands, we identified 28 different disease-causing variants of 9 different known OI genes...
January 2018: Molecular Genetics & Genomic Medicine
Alexander S Busch, Casper P Hagen, Maria Assens, Katharina M Main, Kristian Almstrup, Anders Juul
Context: Recent genetic studies have identified genetic variants associated with age at pubertal onset. Whereas genome-wide association studies reported associations of several hundred genetic variants with timing of self-reported age at menarche, a recent clinical study focused on genetic variation affecting follicle-stimulating hormone action and clinically determined age at thelarche. The observations appear to be incongruent, as effect sizes varied substantially among the studies...
January 1, 2018: Journal of Clinical Endocrinology and Metabolism
Y Liu, Asan, D Ma, F Lv, X Xu, J Wang, W Xia, Y Jiang, O Wang, X Xing, W Yu, J Wang, J Sun, L Song, Y Zhu, H Yang, J Wang, M Li
The achievement of more accurate diagnosis would greatly benefit the management of patients with osteogenesis imperfecta (OI). In this study, we present the largest OI sample in China as screened by next generation sequencing. In particular, we successfully identified 81 variants, which included 45 novel variants. We further did a genotype-phenotype analysis, which helps make a better understanding of OI. INTRODUCTION: This study aims to reveal the gene mutation spectrum and the genotype-phenotype relationship among Chinese OI patients by next generation sequencing (NGS)...
October 2017: Osteoporosis International
Emma A Webb, Meena Balasubramanian, Nadja Fratzl-Zelman, Wayne A Cabral, Hannah Titheradge, Atif Alsaedi, Vrinda Saraff, Julie Vogt, Trevor Cole, Susan Stewart, Nicola J Crabtree, Brandi M Sargent, Sonja Gamsjaeger, Eleftherios P Paschalis, Paul Roschger, Klaus Klaushofer, Nick J Shaw, Joan C Marini, Wolfgang Högler
Context: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. Objectives: Clinical and bone material phenotype description and osteoblast differentiation studies. Design and Setting: Natural history study in pediatric research centers. Patients: Eight patients with type XIV OI. Main Outcome Measures: Clinical examinations included bone mineral density, radiographs, echocardiography, and muscle biopsy...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
Jose A Caparros-Martin, Mona S Aglan, Samia Temtamy, Ghada A Otaify, Maria Valencia, Julián Nevado, Elena Vallespin, Angela Del Pozo, Carmen Prior de Castro, Lucia Calatrava-Ferreras, Pilar Gutierrez, Ana M Bueno, Belen Sagastizabal, Encarna Guillen-Navarro, Maria Ballesta-Martinez, Vanesa Gonzalez, Sarenur Y Basaran, Ruksan Buyukoglan, Bilge Sarikepe, Cecilia Espinoza-Valdez, Francisco Cammarata-Scalisi, Victor Martinez-Glez, Karen E Heath, Pablo Lapunzina, Victor L Ruiz-Perez
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. Although most cases of OI have heterozygous mutations in COL1A1 or COL1A2 and show autosomal dominant inheritance, during the last years there has been an explosion in the number of genes responsible for both recessive and dominant forms of this condition. Herein, we have analyzed a cohort of patients with OI, all offspring of unaffected parents, to determine the spectrum of variants accounting for these cases...
January 2017: Molecular Genetics & Genomic Medicine
Wayne A Cabral, Masaki Ishikawa, Matthias Garten, Elena N Makareeva, Brandi M Sargent, MaryAnn Weis, Aileen M Barnes, Emma A Webb, Nicholas J Shaw, Leena Ala-Kokko, Felicitas L Lacbawan, Wolfgang Högler, Sergey Leikin, Paul S Blank, Joshua Zimmerberg, David R Eyre, Yoshihiko Yamada, Joan C Marini
Recessive osteogenesis imperfecta (OI) is caused by defects in proteins involved in post-translational interactions with type I collagen. Recently, a novel form of moderately severe OI caused by null mutations in TMEM38B was identified. TMEM38B encodes the ER membrane monovalent cation channel, TRIC-B, proposed to counterbalance IP3R-mediated Ca2+ release from intracellular stores. The molecular mechanisms by which TMEM38B mutations cause OI are unknown. We identified 3 probands with recessive defects in TMEM38B...
July 2016: PLoS Genetics
Fang Lv, Xiao-Jie Xu, Jian-Yi Wang, Yi Liu, Asan, Jia-Wei Wang, Li-Jie Song, Yu-Wen Song, Yan Jiang, Ou Wang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li
Osteogenesis imperfecta (OI) is a group of clinically and genetically heterogeneous disorders characterized by decreased bone mass and recurrent bone fractures. Transmembrane protein 38B (TMEM38B) gene encodes trimeric intracellular cation channel type B (TRIC-B), mutations of which will lead to the rare form of autosomal recessive OI. Here we detected pathogenic gene mutations in TMEM38B and investigated its phenotypes in three children with OI from two non-consanguineous families of Chinese Han origin. The patients suffered from recurrent fractures, low bone mass, mild bone deformities and growth retardation, but did not have impaired hearing or dentinogenesis imperfecta...
June 2016: Journal of Human Genetics
Renata Moldenhauer Minillo, Nara Sobreira, Maria de Fatima de Faria Soares, Julie Jurgens, Hua Ling, Kurt N Hetrick, Kimberly F Doheny, David Valle, Decio Brunoni, Ana B Alvarez Perez
Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype...
December 2014: Molecular Syndromology
Eugênia R Valadares, Túlio B Carneiro, Paula M Santos, Ana Cristina Oliveira, Bernhard Zabel
OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: Literature review in the PubMed and OMIM databases, followed by selection of relevant references. SUMMARY OF THE FINDINGS: In 1979, Sillence et al. developed a classification of OI subtypes based on clinical features and disease severity: OI type I, mild, common, with blue sclera; OI type II, perinatal lethal form; OI type III, severe and progressively deforming, with normal sclera; and OI type IV, moderate severity with normal sclera...
November 2014: Jornal de Pediatria
Elisa Rubinato, Anna Morgan, Angela D'Eustacchio, Vanna Pecile, Giulia Gortani, Paolo Gasparini, Flavio Faletra
Osteogenesis imperfecta (OI) is a hereditary bone disease characterized by decreased bone density and multiple fractures, usually inherited in an autosomal dominant manner. Several gene encoding proteins related to collagen metabolism have been described in some cases of autosomal recessive OI (including CRTAP, LEPRE1, PPIB, FKBP65, SERPINF1, BMP1, WNT1, FKBP10). Recently, TMEM38B, a gene that encodes TRIC-B, a monovalent cation-specific channel involved in calcium flux from intracellular stores and in cell differentiation, has been associated with autosomal recessive OI...
July 25, 2014: Gene
Joan C Marini, Angela R Blissett
Osteogenesis imperfecta (OI) is a heritable bone dysplasia characterized by bone fragility and deformity and growth deficiency. Most cases of OI (classical types) have autosomal dominant inheritance and are caused by mutations in the type I collagen genes. During the past several years, a number of noncollagenous genes whose protein products interact with collagen have been identified as the cause(s) of rare forms of OI. This has led to a paradigm shift for OI as a collagen-related condition. The majority of the non-classical OI types have autosomal recessive inheritance and null mutations in their respective genes...
August 2013: Journal of Clinical Endocrinology and Metabolism
Chizu Tanikawa, Yukinori Okada, Atsushi Takahashi, Katsutoshi Oda, Naoyuki Kamatani, Michiaki Kubo, Yusuke Nakamura, Koichi Matsuda
Age at menarche (AAM) is a complex trait involving both genetic and environmental factors. To identify the genetic factors associated with AAM, we conducted a large-scale meta-analysis of genome-wide association studies using more than 15,000 Japanese female samples. Here, we identified an association between SNP (single nucleotide polymorphism) rs364663 at the LIN28B locus and AAM, with a P-value of 5.49×10(-7) and an effect size of 0.089 (year). We also evaluated 33 SNPs that were previously reported to be associated with AAM in women of European ancestry...
2013: PloS One
Michael Volodarsky, Barak Markus, Idan Cohen, Orna Staretz-Chacham, Hagit Flusser, Daniella Landau, Ilan Shelef, Yshaia Langer, Ohad S Birk
Autosomal recessive osteogenesis imperfecta (OI) was diagnosed in three unrelated Israeli Bedouin consanguineous families. Fractures were evident in all cases in infancy. Genome-wide linkage analysis ruled out association with any of the known OI genes, and identified a single homozygosity locus of approximately 2 Mb on chromosome 9 common to all affected individuals (maximum multipoint lod score 6.5). Whole exome sequencing identified only a single mutation within this locus that was shared by all affected individuals: a homozygous deletion mutation of exon 4 of TMEM38B, leading to an early stop codon and a truncated protein, as well as low TMEM38B mRNA levels...
April 2013: Human Mutation
Ranad Shaheen, Anas M Alazami, Muneera J Alshammari, Eissa Faqeih, Nadia Alhashmi, Noon Mousa, Aisha Alsinani, Shinu Ansari, Fatema Alzahrani, Mohammed Al-Owain, Zayed S Alzayed, Fowzan S Alkuraya
BACKGROUND: Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased bone fragility leads to frequent fractures and other complications, usually in an autosomal dominant fashion. An expanding list of genes that encode proteins related to collagen metabolism are now recognised as important causes of autosomal recessive (AR) OI. Our aim was to study the contribution of known genes to AR OI in order to identify novel loci in mutation-negative cases. METHODS: We enrolled multiplex consanguineous families and simplex cases (also consanguineous) in which mutations in COL1A1 and COL1A2 had been excluded...
October 2012: Journal of Medical Genetics
Volodymyr Dvornyk, Waqar-ul-Haq
BACKGROUND: Menarche is the first menstrual period of a girl at puberty. The timing of menarche is important for health in later life. Age at menarche is a complex trait and has a strong genetic component. This review summarizes the results of the genetic studies of age at menarche conducted to date, highlights existing problems in this area and outlines prospects of future studies on genetic factors for the trait. METHODS: PubMed and Google Scholar were searched until May 2011 using the keywords: 'menarche', 'puberty' and 'age at menarche' in combination with the keywords 'polymorphism', 'candidate gene', 'genome-wide association study' and 'linkage'...
March 2012: Human Reproduction Update
Christina T L Chen, Lindsay Fernández-Rhodes, Robert G Brzyski, Christopher S Carlson, Zhao Chen, Gerardo Heiss, Kari E North, Nancy F Woods, Aleksandar Rajkovic, Charles Kooperberg, Nora Franceschini
Several genome-wide studies have identified loci associated with reproductive traits, such as ages of menarche and menopause, in women of European ancestry. In this study, we investigated the relevance of these loci in minority US Hispanic women. We utilized data from 3468 women who were genotyped as a part of the Women's Health Initiative SNP Health Association Resource. We replicated associations of eight loci (LRP18, LIN28B, CENPW, INHBA, TMEM38B, ZNF483, NFAT5 and OLFM2) with age at menarche, and of two loci (MCM8 and BRSK1/TMEM150B) with age at menopause...
March 15, 2012: Human Molecular Genetics
John R B Perry, Lisette Stolk, Nora Franceschini, Kathryn L Lunetta, Guangju Zhai, Patrick F McArdle, Albert V Smith, Thor Aspelund, Stefania Bandinelli, Eric Boerwinkle, Lynn Cherkas, Gudny Eiriksdottir, Karol Estrada, Luigi Ferrucci, Aaron R Folsom, Melissa Garcia, Vilmundur Gudnason, Albert Hofman, David Karasik, Douglas P Kiel, Lenore J Launer, Joyce van Meurs, Michael A Nalls, Fernando Rivadeneira, Alan R Shuldiner, Andrew Singleton, Nicole Soranzo, Toshiko Tanaka, Jenny A Visser, Michael N Weedon, Scott G Wilson, Vivian Zhuang, Elizabeth A Streeten, Tamara B Harris, Anna Murray, Tim D Spector, Ellen W Demerath, André G Uitterlinden, Joanne M Murabito
We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(-9)), which also influences adult height. We provide the first evidence for common genetic variants influencing female sexual maturation.
June 2009: Nature Genetics
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