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Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A
Author(s) -
Tümer Zeynep,
Birk Møller Lisbeth,
Horn Nina
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.10287
Subject(s) - menkes disease , atp7a , biology , mutation , disease , genetics , gene , pathology , copper metabolism , medicine , copper , chemistry , organic chemistry , transporter
Menkes disease (MD) is an X‐linked multisystemic lethal disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. MD results from mutations in the ATP7A gene, which encodes a membrane‐bound copper transporting P‐type ATPase located in the trans‐Golgi network. In this study we describe screening of 383 unrelated patients affected with Menkes disease for gross deletions in ATP7A gene and finding of 57 patients. The present data suggests that gross deletion of ATP7A is the disease‐causing mutation in 14.9% of the Menkes disease patients. Except for a few cases, gross gene deletions result in the classical form of Menkes disease with death in early childhood. Hum Mutat 22:457–464, 2003. © 2003 Wiley‐Liss, Inc.