A gene for ulnar-mammary syndrome maps to 12q23-q24.1

Human Molecular Genetics
Michael J BamshadL B Jorde

Abstract

Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty and genital anomalies. We report the mapping of a gene causing UMS to chromosome 12q23-24.1. Linkage analysis generated a positive lod score of 6.21 at theta = 0.00 with the marker D12S79, and recombinants bracket the UMS gene to a 21 cM region. This region contains a locus for Holt-Oram syndrome (HOS) suggesting that the genes for UMS and HOS may be allelic or closely linked. The identification of the gene causing UMS will be an important step toward understanding the molecular mechanisms that control limb and apocrine gland development.

Citations

Nov 11, 1996·American Journal of Medical Genetics·M BamshadJ C Carey
Sep 10, 2004·Clinical Genetics·D IsphordingH-G Simon
Nov 26, 2009·American Journal of Medical Genetics. Part a·Helen LindenUsha Kini
Jan 10, 2012·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Nataki C DouglasVirginia E Papaioannou
Jan 1, 1997·Obesity Research·L PérusseC Bouchard
Jun 1, 1997·Trends in Genetics : TIG·V E Papaioannou

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