Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

European Journal of Human Genetics : EJHG
Piranit N KantaputraStefan Mundlos

Abstract

Mesomelic dysplasia Kantaputra type (MDK) is characterized by marked mesomelic shortening of the upper and lower limbs originally described in a Thai family. To identify the cause of MDK, we performed array CGH and identified two microduplications on chromosome 2 (2q31.1-q31.2) encompassing ∼481 and 507 kb, separated by a segment of normal copy number. The more centromeric duplication encompasses the entire HOXD cluster, as well as the neighboring genes EVX2 and MTX2. The breakpoints of the duplication localize to the same region as the previously identified inversion of the mouse mutant ulnaless (Ul), which has a similar phenotype as MDK. We propose that MDK is caused by duplications that modify the topography of the locus and as such result in deregulation of HOXD gene expression.

References

Dec 11, 1992·American Journal of Medical Genetics·P N KantaputraL O Langer
Jun 4, 1998·Journal of Human Genetics·M FujimotoN Niikawa
Aug 10, 1999·American Journal of Medical Genetics·A SlavotinekH Kingston
Oct 3, 2002·American Journal of Medical Genetics·Frances R Goodman
Jul 19, 2003·Science·Deneen M Wellik, Mario R Capecchi
Dec 12, 2003·Development·Anne M Boulet, Mario R Capecchi
Jun 12, 2004·Science·József ZákányDenis Duboule
Jun 24, 2004·American Journal of Medical Genetics. Part a·Deborah J ShearsChristine Hall
Jul 21, 2004·American Journal of Medical Genetics. Part a·M L KweeJ J P Gille
Jun 28, 2005·Journal of Medical Genetics·B DlugaszewskaV M Kalscheuer
Jan 10, 2006·Developmental Cell·Basile Tarchini, Denis Duboule
Jul 24, 2007·Current Opinion in Genetics & Development·Jozsef Zakany, Denis Duboule
Mar 31, 2009·American Journal of Human Genetics·Katarina DatheStefan Mundlos
Jul 10, 2009·Nature·Jong-Il KimJeong-Sun Seo

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Citations

Jun 10, 2011·European Journal of Human Genetics : EJHG·Jamal GhoumidMuriel Holder-Espinasse
Nov 9, 2012·Proceedings of the National Academy of Sciences of the United States of America·Thomas MontavonDenis Duboule
Nov 9, 2011·Annual Review of Genetics·Patrick Tschopp, Denis Duboule
Jul 16, 2011·Annual Review of Genomics and Human Genetics·Eva Klopocki, Stefan Mundlos
Apr 30, 2013·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Malte Spielmann, Stefan Mundlos
Jan 5, 2011·Developmental Biology·Patrick Tschopp, Denis Duboule
Jun 8, 2014·Current Opinion in Genetics & Development·Wibke Schwarzer, François Spitz
Mar 27, 2015·PloS One·Marc-André LegaultMarie-Pierre Dubé
Oct 22, 2019·American Journal of Medical Genetics. Part a·Geert R MortierMatthew L Warman
Mar 3, 2020·Frontiers in Endocrinology·Robert Brommage, Claes Ohlsson
Oct 9, 2019·European Journal of Human Genetics : EJHG·Cédric Le CaignecAnnick Toutain
Aug 20, 2021·Nature Communications·Christopher Chase BoltDenis Duboule
Jan 9, 2014·Genome Research·Orsolya SymmonsFrançois Spitz

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