Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA -Encoding Lamin A/C
作者: Giuseppe NovelliAntoine MuchirFederica SangiuoloAnne Helbling-LeclercMaria Rosaria D’ApiceCatherine MassartFrancesca CaponPaolo SbracciaMassimo FedericiRenato LauroCosimo TudiscoRosanna PallottaGioacchino ScaranoBruno DallapiccolaLuciano MerliniGisèle Bonne
作者单位: 1Department of Biopathology and Diagnostic Imaging, University of Rome “Tor Vergata,” Rome
2Department of Internal Medicine, University of Rome “Tor Vergata,” Rome
3Department of Surgery, University of Rome “Tor Vergata,” Rome
4Department of Experimental Medicine and Pathology, University of Rome “La Sapienza,” Rome
5CSS-Mendel Institute, Rome
6INSERM U523, Institut de Myologie, Groupe Hospitalier Pitié-Salpétrière, Paris
7Department of Medicine and Aging Science, University “G. D’Annunzio,” Chieti, Italy
8Medical Genetics Division, Hospital of Benevento, Benevento, Italy
9Neuromuscular Unit, “Rizzoli” Orthopaedic Institute, Bologna, Italy
刊名: The American Journal of Human Genetics, 2002, Vol.71 (2), pp.426-431
来源数据库: Elsevier Journal
DOI: 10.1086/341908
原始语种摘要: Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. The LMNA gene encoding two nuclear envelope proteins (lamins A and C [lamin A/C]) maps to chromosome 1q21 and has been associated with five distinct pathologies, including Dunnigan-type familial partial lipodystrophy, a condition that is characterized by subcutaneous fat loss and is invariably associated with insulin resistance and diabetes. Since patients with MAD frequently have partial lipodystrophy and insulin resistance, we hypothesized that the disease may be caused by mutations in the LMNA gene. We analyzed five consanguineous Italian families and demonstrated linkage of MAD to...
全文获取路径: Elsevier  (合作)
影响因子:11.202 (2012)