Literature DB >> 18830230

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Hannelie Engbers1, Jasper J van der Smagt, Ruben van 't Slot, Joris R Vermeesch, Ron Hochstenbach, Martin Poot.   

Abstract

We report on a patient with developmental delay and several facial characteristics reminiscent of Wolf-Hirschhorn syndrome, who carries a terminal 4p16.3 deletion of minimally 1.691 Mb and maximally 1.698 Mb. This deletion contains the FGFRL1 gene, but does not include the WHSC1 gene. Given its expression pattern and its involvement in bone and cartilage formation during embryonic development, the FGFRL1 gene represents a plausible candidate gene for part of the facial characteristics of Wolf-Hirshhorn syndrome in 4p16.3 deletion patients.

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Year:  2008        PMID： 18830230      PMCID： PMC2985965          DOI： 10.1038/ejhg.2008.168

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  12 in total

1.  Characterization of FGFRL1, a novel fibroblast growth factor (FGF) receptor preferentially expressed in skeletal tissues.

Authors:  Beat Trueb; Lei Zhuang; Sara Taeschler; Markus Wiedemann
Journal:  J Biol Chem       Date:  2003-06-17       Impact factor: 5.157

2.  Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

Authors:  G Van Buggenhout; C Melotte; B Dutta; G Froyen; P Van Hummelen; P Marynen; G Matthijs; T de Ravel; K Devriendt; J P Fryns; J R Vermeesch
Journal:  J Med Genet       Date:  2004-09       Impact factor: 6.318

3.  Subtelomeric imbalances in phenotypically normal individuals.

Authors:  Irina Balikova; Björn Menten; Thomy de Ravel; Cédric Le Caignec; Bernard Thienpont; Montse Urbina; Martine Doco-Fenzy; Marjan de Rademaeker; Geert Mortier; Frank Kooy; Janneke van den Ende; Koen Devriendt; Jean-Pierre Fryns; Frank Speleman; Joris Robert Vermeesch
Journal:  Hum Mutat       Date:  2007-10       Impact factor: 4.878

Review 4.  The etiology of Wolf-Hirschhorn syndrome.

Authors:  Andrew D Bergemann; Francesca Cole; Kurt Hirschhorn
Journal:  Trends Genet       Date:  2005-03       Impact factor: 11.639

5.  From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back?

Authors:  M Zollino; R Bova; G Neri
Journal:  Am J Med Genet       Date:  1996-12-02

6.  Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.

Authors:  L Titomanlio; A Romano; A Conti; R Genesio; M Salerno; D De Brasi; L Nitsch; E Del Giudice
Journal:  Am J Med Genet A       Date:  2004-06-01       Impact factor: 2.802

7.  Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

Authors:  Marcella Zollino; Rosetta Lecce; Rita Fischetto; Marina Murdolo; Francesca Faravelli; Angelo Selicorni; Cinzia Buttè; Luigi Memo; Giuseppe Capovilla; Giovanni Neri
Journal:  Am J Hum Genet       Date:  2003-01-30       Impact factor: 11.025

8.  Expression of FGFRL1, a novel fibroblast growth factor receptor, during embryonic development.

Authors:  Beat Trueb; Sara Taeschler
Journal:  Int J Mol Med       Date:  2006-04       Impact factor: 4.101

9.  The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

Authors:  Laura Rodríguez; Marcella Zollino; Salvador Climent; Elena Mansilla; Fermina López-Grondona; María Luisa Martínez-Fernández; Marina Murdolo; María Luisa Martínez-Frías
Journal:  Am J Med Genet A       Date:  2005-07-15       Impact factor: 2.802

10.  An optimized set of human telomere clones for studying telomere integrity and architecture.

Authors:  S J Knight; C M Lese; K S Precht; J Kuc; Y Ning; S Lucas; R Regan; M Brenan; A Nicod; N M Lawrie; D L Cardy; H Nguyen; T J Hudson; H C Riethman; D H Ledbetter; J Flint
Journal:  Am J Hum Genet       Date:  2000-06-22       Impact factor: 11.043
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  24 in total

1.  C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.

Authors:  Sabine Endele; Claudia Nelkenbrecher; Annegret Bördlein; Stefanie Schlickum; Andreas Winterpacht
Journal:  Neurogenetics       Date:  2011-02-02       Impact factor: 2.660

2.  Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies.

Authors:  Tianhua Niu; Ning Liu; Ming Zhao; Guie Xie; Lei Zhang; Jian Li; Yu-Fang Pei; Hui Shen; Xiaoying Fu; Hao He; Shan Lu; Xiang-Ding Chen; Li-Jun Tan; Tie-Lin Yang; Yan Guo; Paul J Leo; Emma L Duncan; Jie Shen; Yan-Fang Guo; Geoffrey C Nicholson; Richard L Prince; John A Eisman; Graeme Jones; Philip N Sambrook; Xiang Hu; Partha M Das; Qing Tian; Xue-Zhen Zhu; Christopher J Papasian; Matthew A Brown; André G Uitterlinden; Yu-Ping Wang; Shuanglin Xiang; Hong-Wen Deng
Journal:  Hum Mol Genet       Date:  2015-05-04       Impact factor: 6.150

3.  Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.

Authors:  Nelson LopezJimenez; Simon Gerber; Vlad Popovici; Sonia Mirza; Kirsten Copren; Linda Ta; Gary M Shaw; Beat Trueb; Anne M Slavotinek
Journal:  Hum Genet       Date:  2009-12-19       Impact factor: 4.132

4.  Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

Authors:  Peter Hammond; Femke Hannes; Michael Suttie; Koen Devriendt; Joris Robert Vermeesch; Francesca Faravelli; Francesca Forzano; Susan Parekh; Steve Williams; Dominic McMullan; Sarah T South; John C Carey; Oliver Quarrell
Journal:  Eur J Hum Genet       Date:  2011-07-27       Impact factor: 4.246

Review 5.  Biology of FGFRL1, the fifth fibroblast growth factor receptor.

Authors:  Beat Trueb
Journal:  Cell Mol Life Sci       Date:  2010-11-16       Impact factor: 9.261

6.  Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice.

Authors:  Catarina Catela; Daniel Bilbao-Cortes; Esfir Slonimsky; Paschalis Kratsios; Nadia Rosenthal; Pascal Te Welscher
Journal:  Dis Model Mech       Date:  2009-04-21       Impact factor: 5.758

7.  The FGFRL1 receptor is shed from cell membranes, binds fibroblast growth factors (FGFs), and antagonizes FGF signaling in Xenopus embryos.

Authors:  Florian Steinberg; Lei Zhuang; Michael Beyeler; Roland E Kälin; Primus E Mullis; André W Brändli; Beat Trueb
Journal:  J Biol Chem       Date:  2009-11-17       Impact factor: 5.157

8.  Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.

Authors:  Erica F Andersen; John C Carey; Dawn L Earl; Deyanira Corzo; Michael Suttie; Peter Hammond; Sarah T South
Journal:  Eur J Hum Genet       Date:  2013-08-21       Impact factor: 4.246

9.  Distinct Epileptogenic Mechanisms Associated with Seizures in Wolf-Hirschhorn Syndrome.

Authors:  Thiago Corrêa; Maytza Mayndra; Cíntia B Santos-Rebouças
Journal:  Mol Neurobiol       Date:  2022-03-12       Impact factor: 5.590

10.  FGFRL1 is a neglected putative actor of the FGF signalling pathway present in all major metazoan phyla.

Authors:  Stephanie Bertrand; Ildiko Somorjai; Jordi Garcia-Fernandez; Thomas Lamonerie; Hector Escriva
Journal:  BMC Evol Biol       Date:  2009-09-09       Impact factor: 3.260
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