Clinical expression of Menkes disease in females with normal karyotype

Lisbeth Birk Møller; Malgorzata Lenartowicz; Marie-Therese Zabot; Arnaud Josiane; Lydie Burglen; Chris Bennett; Daniel Riconda; Richard Fisher; Sandra Janssens; Shehla Mohammed; Margreet Ausems; Zeynep Tümer; Nina Horn; Thomas Jensen

doi:10.1186/1750-1172-7-6

Clinical expression of Menkes disease in females with normal karyotype

Lisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, Arnaud Josiane, Lydie Burglen, Chris Bennett, Daniel Riconda, Richard Fisher, Sandra Janssens, Shehla Mohammed, Margreet Ausems, Zeynep Tümer, Nina Horn, Thomas Jensen

Department of Clinical Genetics

39 Citations (Scopus)

Abstract

Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of MD patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes.

Original language	English
Journal	Orphanet Journal of Rare Diseases
Volume	7
Pages (from-to)	6
ISSN	1750-1172
DOIs	https://doi.org/10.1186/1750-1172-7-6
Publication status	Published - 2012

Keywords

Adenosine Triphosphatases
Cation Transport Proteins
Chromosomes, Human, X
Copper
Female
Gene Expression Regulation
Humans
Karyotype
Male
Menkes Kinky Hair Syndrome
Mutation
Phenotype

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title = "Clinical expression of Menkes disease in females with normal karyotype",

abstract = "Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of MD patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes.",

keywords = "Adenosine Triphosphatases, Cation Transport Proteins, Chromosomes, Human, X, Copper, Female, Gene Expression Regulation, Humans, Karyotype, Male, Menkes Kinky Hair Syndrome, Mutation, Phenotype",

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doi = "10.1186/1750-1172-7-6",

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TY - JOUR

T1 - Clinical expression of Menkes disease in females with normal karyotype

AU - Møller, Lisbeth Birk

AU - Lenartowicz, Malgorzata

AU - Zabot, Marie-Therese

AU - Josiane, Arnaud

AU - Burglen, Lydie

AU - Bennett, Chris

AU - Riconda, Daniel

AU - Fisher, Richard

AU - Janssens, Sandra

AU - Mohammed, Shehla

AU - Ausems, Margreet

AU - Tümer, Zeynep

AU - Horn, Nina

AU - Jensen, Thomas

PY - 2012

Y1 - 2012

N2 - Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of MD patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes.

AB - Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of MD patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes.

KW - Adenosine Triphosphatases

KW - Cation Transport Proteins

KW - Chromosomes, Human, X

KW - Copper

KW - Female

KW - Gene Expression Regulation

KW - Humans

KW - Karyotype

KW - Male

KW - Menkes Kinky Hair Syndrome

KW - Mutation

KW - Phenotype

UR - https://www.scopus.com/pages/publications/84858159382

U2 - 10.1186/1750-1172-7-6

DO - 10.1186/1750-1172-7-6

M3 - Journal article

C2 - 22264391

SN - 1750-1172

VL - 7

SP - 6

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

ER -

Clinical expression of Menkes disease in females with normal karyotype

Abstract

Keywords

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