PMID: 9004130Dec 1, 1996Paper

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

Journal of Medical Genetics
A Raas-RothschildArnold 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.

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Citations

Jul 12, 2002·Genesis : the Journal of Genetics and Development·Giorgio R MerloGiovanni Levi
Jan 12, 2002·Prenatal Diagnosis·I WittersJ P Fryns
Oct 12, 2001·Clinical Genetics·S SifakisP Tsipouras
Nov 7, 2007·Proceedings of the National Academy of Sciences of the United States of America·Hiroki KanoTatsushi Toda
Jun 17, 1998·Proceedings of the National Academy of Sciences of the United States of America·L M SelforsM J Stern
Apr 6, 2005·American Journal of Medical Genetics. Part a·Jose E García-OrtizDiana García-Cruz
Dec 20, 2000·The Journal of Hand Surgery·H R McCarroll
May 19, 2009·American Journal of Medical Genetics. Part a·Hirotomo SaitsuNaomichi Matsumoto
Jun 10, 2006·American Journal of Medical Genetics. Part a·Donald BaselPetros Tsipouras
Oct 12, 2013·American Journal of Medical Genetics. Part a·Fiorella Gurrieri, David B Everman
Jul 16, 1999·Biochemical and Biophysical Research Communications·P IanakievP Tsipouras
Jun 7, 2000·American Journal of Human Genetics·P IanakievP Tsipouras
Oct 3, 2002·American Journal of Medical Genetics·Han G BrunnerHans van Bokhoven Hv
Feb 1, 2018·Genetics and Molecular Biology·Asmat UllahWasim Ahmad
Jan 10, 2019·European Journal of Human Genetics : EJHG·Muriel Holder-EspinasseSylvie Manouvrier-Hanu

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