Literature DB >> 9004130

Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.

A Raas-Rothschild1, S Manouvrier, M Gonzales, J P Farriaux, S Lyonnet, A Munnich.   

Abstract

Split hand-split foot malformation (SHFM) is a genetically heterogeneous limb developmental defect characterised by the absence of digital rays and syndactyly of the remaining digits. Three disease loci have recently been mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q25 respectively (SHFM3). We report the mapping of SHFM3 to chromosome 10q25 in two large SHFM families of French ancestry (Zmax for the combined families = 6.62 at theta = 0 for marker AFM249wc5 at locus D10S222). Two recombinant events reduced the critical region to a 9 cM interval (D10S1709-D10S1663) encompassing several candidate genes including a paired box gene PAX2 (Zmax = 5.35 at theta = 0). The fibroblast growth factor 8 (FGF 8), the retinol binding protein (RBP4), the zinc finger protein (ZNF32), and the homeobox genes HMX2 and HOX11 are also good candidates by both their position and their function.

Entities:  

Mesh：

Year:  1996        PMID： 9004130      PMCID： PMC1050809          DOI： 10.1136/jmg.33.12.996

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  24 in total

1.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

2.  HOX11, a homeobox-containing T-cell oncogene on human chromosome 10q24.

Authors:  M A Kennedy; R Gonzalez-Sarmiento; U R Kees; F Lampert; N Dear; T Boehm; T H Rabbitts
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-15       Impact factor: 11.205

3.  A split hand-split foot (SHFM3) gene is located at 10q24-->25.

Authors:  F Gurrieri; P Prinos; D Tackels; M W Kilpatrick; J Allanson; M Genuardi; A Vuckov; L Nanni; E Sangiorgi; G Garofalo; M E Nunes; G Neri; C Schwartz; P Tsipouras
Journal:  Am J Med Genet       Date:  1996-04-24

4.  X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred.

Authors:  M Ahmad; H Abbas; S Haque; G Flatz
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

5.  A recessive form of ectrodactyly, and its implications in genetic counseling.

Authors:  A Freire-Maia
Journal:  J Hered       Date:  1971 Jan-Feb       Impact factor: 2.645

6.  Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.

Authors:  M Faiyaz ul Haque; S Uhlhaas; M Knapp; H Schüler; W Friedl; M Ahmad; P Propping
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

7.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

8.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

9.  Regional mapping of RBP4 to 10q23----q24 and RBP1 to 3q21----q22 in man.

Authors:  M Rocchi; A Covone; G Romeo; R Faraonio; V Colantuoni
Journal:  Somat Cell Mol Genet       Date:  1989-03

10.  Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.

Authors:  M Sharland; M A Patton; L Hill
Journal:  Am J Med Genet       Date:  1991-06-15
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  14 in total

1.  Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

Authors:  P Ianakiev; M W Kilpatrick; I Toudjarska; D Basel; P Beighton; P Tsipouras
Journal:  Am J Hum Genet       Date:  2000-06-05       Impact factor: 11.025

2.  Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.

Authors:  R S Ozen; B E Baysal; B Devlin; J E Farr; M Gorry; G D Ehrlich; C W Richard
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

3.  Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Authors:  Muriel Holder-Espinasse; Aleksander Jamsheer; Fabienne Escande; Joris Andrieux; Florence Petit; Anna Sowinska-Seidler; Magdalena Socha; Anna Jakubiuk-Tomaszuk; Marion Gerard; Michèle Mathieu-Dramard; Valérie Cormier-Daire; Alain Verloes; Annick Toutain; Ghislaine Plessis; Philippe Jonveaux; Clarisse Baumann; Albert David; Chantal Farra; Estelle Colin; Sébastien Jacquemont; Annick Rossi; Sahar Mansour; Neeti Ghali; Anne Moncla; Nayana Lahiri; Jane Hurst; Elena Pollina; Christine Patch; Joo Wook Ahn; Anne-Sylvie Valat; Aurélie Mezel; Philippe Bourgeot; David Zhang; Sylvie Manouvrier-Hanu
Journal:  Eur J Hum Genet       Date:  2019-01-08       Impact factor: 4.246

4.  Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.

Authors:  V S Vervoort; D Viljoen; R Smart; G Suthers; B R DuPont; A Abbott; C E Schwartz
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

5.  p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

Authors:  H van Bokhoven; B C Hamel; M Bamshad; E Sangiorgi; F Gurrieri; P H Duijf; K R Vanmolkot; E van Beusekom; S E van Beersum; J Celli; G F Merkx; R Tenconi; J P Fryns; A Verloes; R A Newbury-Ecob; A Raas-Rotschild; F Majewski; F A Beemer; A Janecke; D Chitayat; G Crisponi; H Kayserili; J R Yates; G Neri; H G Brunner
Journal:  Am J Hum Genet       Date:  2001-07-17       Impact factor: 11.025

6.  Unilateral cleft hand with cleft foot.

Authors:  Asif Nazir Baba; Yasmeen J Bhat; Sheikh Mushtaq Ahmed; Abid Nazir
Journal:  Int J Health Sci (Qassim)       Date:  2009-07

7.  Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation.

Authors:  Hiroki Kano; Kenji Kurosawa; Emiko Horii; Shiro Ikegawa; Hideki Yoshikawa; Hiroki Kurahashi; Tatsushi Toda
Journal:  Hum Genet       Date:  2005-10-19       Impact factor: 4.132

8.  Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype.

Authors:  Hiroki Kano; Hiroki Kurahashi; Tatsushi Toda
Journal:  Proc Natl Acad Sci U S A       Date:  2007-11-05       Impact factor: 11.205

9.  soc-2 encodes a leucine-rich repeat protein implicated in fibroblast growth factor receptor signaling.

Authors:  L M Selfors; J L Schutzman; C Z Borland; M J Stern
Journal:  Proc Natl Acad Sci U S A       Date:  1998-06-09       Impact factor: 11.205

10.  Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation.

Authors:  Li Dai; Ying Deng; Nana Li; Liang Xie; Meng Mao; Jun Zhu
Journal:  BMC Med Genet       Date:  2013-04-18       Impact factor: 2.103
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