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

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.

• Authors: M Bamshad, P A Krakowiak, W S Watkins, S Root, J C Carey, L B Jorde
• Journal: Human molecular genetics (Hum Mol Genet) Vol. 4 Issue 10 Pg. 1973-7 (Oct 1995) ISSN: 0964-6906 [Print] England
• PMID: 8595424 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.)

Topics

• Abnormalities, Multiple (genetics)
• Breast (abnormalities)
• Chromosome Mapping
• Chromosomes, Human, Pair 12
• Female
• Foot Deformities, Congenital (genetics)
• Genes, Dominant
• Genotype
• Hand Deformities, Congenital (genetics)
• Humans
• Karyotyping
• Male
• Pedigree
• Syndrome
• Ulna (abnormalities)