Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A

Zeynep Tümer; Lisbeth Birk Møller; Nina Horn

doi:10.1002/humu.10287

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A

Zeynep Tümer^*, Lisbeth Birk Møller, Nina Horn

^*Corresponding author for this work

59 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Human Mutation
Volume	22
Issue number	6
Pages (from-to)	457-64
Number of pages	8
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.10287
Publication status	Published - Dec 2003
Externally published	Yes

Keywords

Adenosine Triphosphatases/genetics
Cation Transport Proteins/genetics
Copper-Transporting ATPases
DNA/chemistry
DNA Mutational Analysis
DNA, Complementary/chemistry
Gene Deletion
Genetic Testing
Humans
Menkes Kinky Hair Syndrome/diagnosis
Recombinant Fusion Proteins/genetics

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10.1002/humu.10287

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@article{8423bba61f054c25a52e2735f54bd7d4,

title = "Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A",

abstract = "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.",

keywords = "Adenosine Triphosphatases/genetics, Cation Transport Proteins/genetics, Copper-Transporting ATPases, DNA/chemistry, DNA Mutational Analysis, DNA, Complementary/chemistry, Gene Deletion, Genetic Testing, Humans, Menkes Kinky Hair Syndrome/diagnosis, Recombinant Fusion Proteins/genetics",

author = "Zeynep T{\"u}mer and \{Birk M{\o}ller\}, Lisbeth and Nina Horn",

year = "2003",

month = dec,

doi = "10.1002/humu.10287",

language = "English",

volume = "22",

pages = "457--64",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

number = "6",

}

TY - JOUR

T1 - Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A

AU - Tümer, Zeynep

AU - Birk Møller, Lisbeth

AU - Horn, Nina

PY - 2003/12

Y1 - 2003/12

N2 - 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.

AB - 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.

KW - Adenosine Triphosphatases/genetics

KW - Cation Transport Proteins/genetics

KW - Copper-Transporting ATPases

KW - DNA/chemistry

KW - DNA Mutational Analysis

KW - DNA, Complementary/chemistry

KW - Gene Deletion

KW - Genetic Testing

KW - Humans

KW - Menkes Kinky Hair Syndrome/diagnosis

KW - Recombinant Fusion Proteins/genetics

UR - https://www.scopus.com/pages/publications/17944404308

U2 - 10.1002/humu.10287

DO - 10.1002/humu.10287

M3 - Journal article

C2 - 14635105

SN - 1059-7794

VL - 22

SP - 457

EP - 464

JO - Human Mutation

JF - Human Mutation

IS - 6

ER -

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A

Abstract

Keywords

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