title: Expression analysis of macrodactyly identifies pleiotrophin upregulation.
abstract: Macrodactyly is a rare family of congenital disorders characterized by the diffuse enlargement of 1 or more digits. Multiple tissue types within the affected digits are involved, but skeletal patterning and gross morphological features are preserved. Not all tissues are equally involved and there is marked heterogeneity with respect to clinical phenotype. The molecular mechanisms responsible for these growth disturbances offer unique insight into normal limb growth and development, in general. To date, no genes or loci have been implicated in the development of macrodactyly. In this study, we performed the first transcriptional profiling of macrodactyly tissue. We found that pleiotrophin (PTN) was significantly overexpressed across all our macrodactyly samples. The mitogenic functions of PTN correlate closely with the clinical characteristics of macrodactyly. PTN thus represents a promising target for further investigation into the etiology of overgrowth phenotypes.
authors: Center for Regenerative Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
authors: Frank H
authors: FH
authors: Lau
authors: Fang
authors: F
authors: Xia
authors: Adam
authors: A
authors: Kaplan
authors: Felecia
authors: F
authors: Cerrato
authors: Arin K
authors: AK
authors: Greene
authors: Amir
authors: A
authors: Taghinia
authors: Chad A
authors: CA
authors: Cowan
authors: Brian I
authors: BI
authors: Labow
mesh_terms: D002352:Carrier Proteins / Q000096:biosynthesis*; D016207:Cytokines / Q000096:biosynthesis*; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000473:pathology / Q000601:surgery; D020869:Gene Expression Profiling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000378:metabolism* / Q000473:pathology / Q000601:surgery; D008297:Male; D015854:Up-Regulation
chemical_list: D002352:Carrier Proteins; D016207:Cytokines; C066845:pleiotrophin