Literature DB >> 25017102

Mutations in ZBTB20 cause Primrose syndrome.

Viviana Cordeddu1, Bert Redeker2, Emilia Stellacci3, Aldo Jongejan4, Alessandra Fragale5, Ted E J Bradley6, Massimiliano Anselmi7, Andrea Ciolfi3, Serena Cecchetti8, Valentina Muto3, Laura Bernardini9, Meron Azage10, Daniel R Carvalho11, Alberto J Espay12, Alison Male13, Anna-Maja Molin14, Renata Posmyk15, Carla Battisti16, Alberto Casertano17, Daniela Melis17, Antoine van Kampen4, Frank Baas6, Marcel M Mannens18, Gianfranco Bocchinfuso7, Lorenzo Stella7, Marco Tartaglia1, Raoul C Hennekam19.   

Abstract

Primrose syndrome and 3q13.31 microdeletion syndrome are clinically related disorders characterized by tall stature, macrocephaly, intellectual disability, disturbed behavior and unusual facial features, with diabetes, deafness, progressive muscle wasting and ectopic calcifications specifically occurring in the former. We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. This finding establishes a genetic link between these disorders and delineates the impact of ZBTB20 dysregulation on development, growth and metabolism.

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Year:  2014        PMID： 25017102     DOI： 10.1038/ng.3035

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  34 in total

Review 1.  DNA recognition by Cys2His2 zinc finger proteins.

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Journal:  Annu Rev Biophys Biomol Struct       Date:  2000

2.  Structure of Aart, a designed six-finger zinc finger peptide, bound to DNA.

Authors:  David J Segal; Justin W Crotty; Mital S Bhakta; Carlos F Barbas; Nancy C Horton
Journal:  J Mol Biol       Date:  2006-08-11       Impact factor: 5.469

3.  Comparison of multiple Amber force fields and development of improved protein backbone parameters.

Authors:  Viktor Hornak; Robert Abel; Asim Okur; Bentley Strockbine; Adrian Roitberg; Carlos Simmerling
Journal:  Proteins       Date:  2006-11-15

4.  Additional features of unique Primrose syndrome phenotype.

Authors:  Daniel Rocha Carvalho; Carlos Eduardo Speck-Martins
Journal:  Am J Med Genet A       Date:  2011-05-12       Impact factor: 2.802

5.  New case of Primrose syndrome with mild intellectual disability.

Authors:  Renata Posmyk; Ryszard Leśniewicz; Monika Chorąży; Sławomir Wołczyński
Journal:  Am J Med Genet A       Date:  2011-09-09       Impact factor: 2.802

6.  Features and development of Coot.

Authors:  P Emsley; B Lohkamp; W G Scott; K Cowtan
Journal:  Acta Crystallogr D Biol Crystallogr       Date:  2010-03-24

7.  Solution structure of the first three zinc fingers of TFIIIA bound to the cognate DNA sequence: determinants of affinity and sequence specificity.

Authors:  D S Wuttke; M P Foster; D A Case; J M Gottesfeld; P E Wright
Journal:  J Mol Biol       Date:  1997-10-17       Impact factor: 5.469

8.  Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

Authors:  Andrey Shuvarikov; Ian M Campbell; Piotr Dittwald; Nicholas J Neill; Martin G Bialer; Christine Moore; Patricia G Wheeler; Stephanie E Wallace; Mark C Hannibal; Michael F Murray; Monica A Giovanni; Deborah Terespolsky; Sandi Sodhi; Matteo Cassina; David Viskochil; Billur Moghaddam; Kristin Herman; Chester W Brown; Christine R Beck; Anna Gambin; Sau Wai Cheung; Ankita Patel; Allen N Lamb; Lisa G Shaffer; Jay W Ellison; J Britt Ravnan; Paweł Stankiewicz; Jill A Rosenfeld
Journal:  Hum Mutat       Date:  2013-08-13       Impact factor: 4.878

9.  dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations.

Authors:  Xiaoming Liu; Xueqiu Jian; Eric Boerwinkle
Journal:  Hum Mutat       Date:  2013-07-10       Impact factor: 4.878

10.  A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Authors:  Anna-Maja Molin; J Andrieux; D A Koolen; V Malan; M Carella; L Colleaux; V Cormier-Daire; A David; N de Leeuw; B Delobel; B Duban-Bedu; R Fischetto; F Flinter; S Kjaergaard; F Kok; A C Krepischi; C Le Caignec; C Mackie Ogilvie; S Maia; M Mathieu-Dramard; A Munnich; O Palumbo; F Papadia; R Pfundt; W Reardon; A Receveur; M Rio; L Ronsbro Darling; C Rosenberg; J Sá; L Vallee; C Vincent-Delorme; L Zelante; M-L Bondeson; G Annerén
Journal:  J Med Genet       Date:  2011-12-17       Impact factor: 6.318
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  32 in total

1.  Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Authors:  Elisabetta Flex; Simone Martinelli; Anke Van Dijck; Andrea Ciolfi; Serena Cecchetti; Elisa Coluzzi; Luca Pannone; Cristina Andreoli; Francesca Clementina Radio; Simone Pizzi; Giovanna Carpentieri; Alessandro Bruselles; Giuseppina Catanzaro; Lucia Pedace; Evelina Miele; Elena Carcarino; Xiaoyan Ge; Chieko Chijiwa; M E Suzanne Lewis; Marije Meuwissen; Sandra Kenis; Nathalie Van der Aa; Austin Larson; Kathleen Brown; Melissa P Wasserstein; Brian G Skotko; Amber Begtrup; Richard Person; Maria Karayiorgou; J Louw Roos; Koen L Van Gassen; Marije Koopmans; Emilia K Bijlsma; Gijs W E Santen; Daniela Q C M Barge-Schaapveld; Claudia A L Ruivenkamp; Mariette J V Hoffer; Seema R Lalani; Haley Streff; William J Craigen; Brett H Graham; Annette P M van den Elzen; Daan J Kamphuis; Katrin Õunap; Karit Reinson; Sander Pajusalu; Monica H Wojcik; Clara Viberti; Cornelia Di Gaetano; Enrico Bertini; Simona Petrucci; Alessandro De Luca; Rossella Rota; Elisabetta Ferretti; Giuseppe Matullo; Bruno Dallapiccola; Antonella Sgura; Magdalena Walkiewicz; R Frank Kooy; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2019-08-22       Impact factor: 11.025

2.  Zbtb20 Restrains CD8 T Cell Immunometabolism and Restricts Memory Differentiation and Antitumor Immunity.

Authors:  Yanbo Sun; Nicholas K Preiss; Kristine B Valenteros; Yasmin Kamal; Young-Kwang Usherwood; H Robert Frost; Edward J Usherwood
Journal:  J Immunol       Date:  2020-09-30       Impact factor: 5.422

Review 3.  A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.

Authors:  Benjamin Kamien; Anne Ronan; Gemma Poke; Ingrid Sinnerbrink; Gareth Baynam; Michelle Ward; William T Gibson; Tracy Dudding-Byth; Rodney J Scott
Journal:  Mol Syndromol       Date:  2018-01-25

4.  Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Authors:  Elisabetta Flex; Marcello Niceta; Serena Cecchetti; Isabelle Thiffault; Margaret G Au; Alessandro Capuano; Emanuela Piermarini; Anna A Ivanova; Joshua W Francis; Giovanni Chillemi; Balasubramanian Chandramouli; Giovanna Carpentieri; Charlotte A Haaxma; Andrea Ciolfi; Simone Pizzi; Ganka V Douglas; Kara Levine; Antonella Sferra; Maria Lisa Dentici; Rolph R Pfundt; Jean-Baptiste Le Pichon; Emily Farrow; Frank Baas; Fiorella Piemonte; Bruno Dallapiccola; John M Graham; Carol J Saunders; Enrico Bertini; Richard A Kahn; David A Koolen; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2016-09-22       Impact factor: 11.025

5.  TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

Authors:  Antonella Sferra; Gilbert Baillat; Teresa Rizza; Sabina Barresi; Elisabetta Flex; Giorgio Tasca; Adele D'Amico; Emanuele Bellacchio; Andrea Ciolfi; Viviana Caputo; Serena Cecchetti; Annalaura Torella; Ginevra Zanni; Daria Diodato; Emanuela Piermarini; Marcello Niceta; Antonietta Coppola; Enrico Tedeschi; Diego Martinelli; Carlo Dionisi-Vici; Vincenzo Nigro; Bruno Dallapiccola; Claudia Compagnucci; Marco Tartaglia; Georg Haase; Enrico Bertini
Journal:  Am J Hum Genet       Date:  2016-09-22       Impact factor: 11.025

6.  Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

Authors:  Carlo Dionisi-Vici; Eyal Shteyer; Marcello Niceta; Cristiano Rizzo; Ben Pode-Shakked; Giovanni Chillemi; Alessandro Bruselles; Michela Semeraro; Ortal Barel; Eran Eyal; Nitzan Kol; Yael Haberman; Avishai Lahad; Francesca Diomedi-Camassei; Dina Marek-Yagel; Gideon Rechavi; Marco Tartaglia; Yair Anikster
Journal:  J Inherit Metab Dis       Date:  2016-07-01       Impact factor: 4.982

Review 7.  Regulation of hematopoietic development by ZBTB transcription factors.

Authors:  Takahiro Maeda
Journal:  Int J Hematol       Date:  2016-06-01       Impact factor: 2.490

Review 8.  Genomic insights into growth and its disorders: an update.

Authors:  Christiaan de Bruin; Andrew Dauber
Journal:  Curr Opin Endocrinol Diabetes Obes       Date:  2016-02       Impact factor: 3.243

9.  Phenotypic Differences between the Alzheimer's Disease-Related hAPP-J20 Model and Heterozygous Zbtb20 Knock-Out Mice.

Authors:  Daniel R Gulbranson; Kaitlyn Ho; Gui-Qiu Yu; Xinxing Yu; Melanie Das; Eric Shao; Daniel Kim; Weiping J Zhang; Krishna Choudhary; Reuben Thomas; Lennart Mucke
Journal:  eNeuro       Date:  2021-05-13

10.  Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

Authors:  Jessica X Chong; Viviana Caputo; Ian G Phelps; Lorenzo Stella; Lisa Worgan; Jennifer C Dempsey; Alina Nguyen; Vincenzo Leuzzi; Richard Webster; Antonio Pizzuti; Colby T Marvin; Gisele E Ishak; Simone Ardern-Holmes; Zara Richmond; Michael J Bamshad; Xilma R Ortiz-Gonzalez; Marco Tartaglia; Maya Chopra; Dan Doherty
Journal:  Am J Hum Genet       Date:  2016-03-31       Impact factor: 11.043
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