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Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27

Official URL:https://doi.org/10.1086/302246
PubMed:View item in PubMed
Creators Name:van Bokhoven, H. and Jung, M. and Smits, A.P.T. and van Beersum, S. and Rueschendorf, F. and van Steensel, M. and Veenstra, M. and Tuerlings, J.H.A.M. and Mariman, E.C.M. and Brunner, H.G. and Wienker, T.F. and Reis, A. and Ropers, H.H. and Hamel, B.C.J.
Journal Title:American Journal of Human Genetics
Journal Abbreviation:Am J Hum Genet
Page Range:538-546
Date:February 1999
Keywords:Limb Mammary Syndrome, Nipple, Development, Chromosome 3, SOX2, Animals
Abstract:We report on a large Dutch family with a syndrome characterized by severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings include lacrimal-duct atresia, nail dysplasia, hypohydrosis, hypodontia, and cleft palate with or without bifid uvula. This combination of symptoms has not been reported previously, although there is overlap with the ulnar mammary syndrome (UMS) and with ectrodactyly, ectodermal dysplasia, and clefting syndrome. Allelism with UMS and other related syndromes was excluded by linkage studies with markers from the relevant chromosomal regions. A genomewide screening with polymorphic markers allowed the localization of the genetic defect to the subtelomeric region of chromosome 3q. Haplotype analysis reduced the critical region to a 3-cM interval of chromosome 3q27. This chromosomal segment has not been implicated previously in disorders with defective development of limbs and/or mammary tissue. Therefore, we propose to call this apparently new disorder "limb mammary syndrome" (LMS). The SOX2 gene at 3q27 might be considered an excellent candidate gene for LMS because the corresponding protein stimulates expression of FGF4, an important signaling molecule during limb outgrowth and development. However, no mutations were found in the SOX2 open reading frame, thus excluding its involvement in LMS.
Publisher:University of Chicago Press (U.S.A.)
Item Type:Article

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