Literature DB >> 22974575

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

Andrew Dauber1, Joan Stoler, Eliana Hechter, Jason Safer, Joel N Hirschhorn.   

Abstract

We present the case of a 19-year-old man with a growth disorder, which was undefined, despite extensive evaluation. Whole exome sequencing demonstrated a novel homozygous frameshift mutation in CUL7, one of the causative genes of 3-M syndrome. We discuss the utility of exome sequencing in diagnosing rare disorders.
Copyright © 2013 Mosby, Inc. All rights reserved.

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Year:  2012        PMID： 22974575      PMCID： PMC3524393          DOI： 10.1016/j.jpeds.2012.07.055

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  12 in total

Review 1.  3-M syndrome: description of six new patients with review of the literature.

Authors:  G van der Wal; B J Otten; H G Brunner; I van der Burgt
Journal:  Clin Dysmorphol       Date:  2001-10       Impact factor: 0.816

2.  3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.

Authors:  Mohammed S Al-Dosari; Muneera Al-Shammari; Ranad Shaheen; Eissa Faqeih; Mohammed A Alghofely; Ahmad Boukai; Fowzan S Alkuraya
Journal:  J Pediatr       Date:  2012-02-09       Impact factor: 4.406

3.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Authors:  Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo
Journal:  Genome Res       Date:  2010-07-19       Impact factor: 9.043

4.  The 3-M syndrome: a heritable low birthweight dwarfism.

Authors:  J D Miller; V A McKusick; P Malvaux; S Temtamy; C Salinas
Journal:  Birth Defects Orig Artic Ser       Date:  1975

Review 5.  Exome sequencing as a tool for Mendelian disease gene discovery.

Authors:  Michael J Bamshad; Sarah B Ng; Abigail W Bigham; Holly K Tabor; Mary J Emond; Deborah A Nickerson; Jay Shendure
Journal:  Nat Rev Genet       Date:  2011-09-27       Impact factor: 53.242

6.  Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

Authors:  Nadia A Akawi; Bassam R Ali; Hanan Hamamy; Azmy Al-Hadidy; Lihadh Al-Gazali
Journal:  Am J Med Genet A       Date:  2011-05-05       Impact factor: 2.802

7.  A map of human genome variation from population-scale sequencing.

Authors:  Gonçalo R Abecasis; David Altshuler; Adam Auton; Lisa D Brooks; Richard M Durbin; Richard A Gibbs; Matt E Hurles; Gil A McVean
Journal:  Nature       Date:  2010-10-28       Impact factor: 49.962

8.  Identification of mutations in CUL7 in 3-M syndrome.

Authors:  Céline Huber; Dora Dias-Santagata; Anna Glaser; James O'Sullivan; Raja Brauner; Kenneth Wu; Xinsong Xu; Kerra Pearce; Rong Wang; Maria Luisa Giovannucci Uzielli; Nathalie Dagoneau; Wassim Chemaitilly; Andrea Superti-Furga; Heloisa Dos Santos; André Mégarbané; Gilles Morin; Gabriele Gillessen-Kaesbach; Raoul Hennekam; Ineke Van der Burgt; Graeme C M Black; Peter E Clayton; Andrew Read; Martine Le Merrer; Peter J Scambler; Arnold Munnich; Zhen-Qiang Pan; Robin Winter; Valérie Cormier-Daire
Journal:  Nat Genet       Date:  2005-09-04       Impact factor: 38.330

9.  A framework for variation discovery and genotyping using next-generation DNA sequencing data.

Authors:  Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly
Journal:  Nat Genet       Date:  2011-04-10       Impact factor: 38.330

10.  Fast and accurate short read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2009-05-18       Impact factor: 6.937
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  18 in total

1.  SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

Authors:  Andrew Dauber; Christelle Golzio; Cécile Guenot; Francine M Jodelka; Maria Kibaek; Susanne Kjaergaard; Bruno Leheup; Danielle Martinet; Malgorzata J M Nowaczyk; Jill A Rosenfeld; Susan Zeesman; Janice Zunich; Jacques S Beckmann; Joel N Hirschhorn; Michelle L Hastings; Sebastien Jacquemont; Nicholas Katsanis
Journal:  Am J Hum Genet       Date:  2013-10-17       Impact factor: 11.025

Review 2.  Genetic evaluation of short stature.

Authors:  Andrew Dauber; Ron G Rosenfeld; Joel N Hirschhorn
Journal:  J Clin Endocrinol Metab       Date:  2014-06-10       Impact factor: 5.958

Review 3.  Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

Authors:  Helen L Storr; Sumana Chatterjee; Louise A Metherell; Corinne Foley; Ron G Rosenfeld; Philippe F Backeljauw; Andrew Dauber; Martin O Savage; Vivian Hwa
Journal:  Endocr Rev       Date:  2019-04-01       Impact factor: 19.871

4.  Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.

Authors:  Jose Bernardo Quintos; Michael H Guo; Andrew Dauber
Journal:  J Pediatr Endocrinol Metab       Date:  2015-07       Impact factor: 1.634

Review 5.  Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

Authors:  Michael H Guo; Joan Stoler; Julian Lui; Ola Nilsson; Diana W Bianchi; Joel N Hirschhorn; Andrew Dauber
Journal:  Am J Med Genet A       Date:  2013-08-16       Impact factor: 2.802

6.  A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.

Authors:  Jonathan M Swartz; Aysehan Akinci; Shayne F Andrew; Ahmet Siğirci; Joel N Hirschhorn; Ron G Rosenfeld; Andrew Dauber; Vivian Hwa
Journal:  Horm Res Paediatr       Date:  2014-11-01       Impact factor: 2.852

7.  Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.

Authors:  Rong Zhao; Yan Ruan; Xin Wang
Journal:  Int J Clin Exp Med       Date:  2015-10-15

8.  Central precocious puberty caused by mutations in the imprinted gene MKRN3.

Authors:  Ana Paula Abreu; Andrew Dauber; Delanie B Macedo; Sekoni D Noel; Vinicius N Brito; John C Gill; Priscilla Cukier; Iain R Thompson; Victor M Navarro; Priscila C Gagliardi; Tânia Rodrigues; Cristiane Kochi; Carlos Alberto Longui; Dominique Beckers; Francis de Zegher; Luciana R Montenegro; Berenice B Mendonca; Rona S Carroll; Joel N Hirschhorn; Ana Claudia Latronico; Ursula B Kaiser
Journal:  N Engl J Med       Date:  2013-06-05       Impact factor: 91.245

9.  Whole exome sequencing to identify genetic causes of short stature.

Authors:  Michael H Guo; Yiping Shen; Emily C Walvoord; Timothy C Miller; Jennifer E Moon; Joel N Hirschhorn; Andrew Dauber
Journal:  Horm Res Paediatr       Date:  2014-06-20       Impact factor: 2.852

10.  Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.

Authors:  Lihong Liao; Hoong-Wei Gan; Vivian Hwa; Mehul Dattani; Andrew Dauber
Journal:  Horm Res Paediatr       Date:  2017-07-04       Impact factor: 2.852
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