Evidence for preferential X-chromosome inactivation in a family with Fabry disease.

American journal of human genetics ·Vol. 29 ·No. 4 ·1977-07-00 ·Pages 361-70

Ropers HH, Wienker TF, Grimm T, Schroetter K, Bender K

Abstract

Severe clinical signs of Fabry disease were observed in four of eight heterozygous daughters of a male patient. Activities of alpha-galactosidase A in serum, white blood cells, and hair roots of the manifesting carriers were markedly lower than 50% of normal. These findings are not easy to interpret in terms of random X inactivation alone; several alternative models including nonrandom (preferential) X inactivation are discussed.

MeSH Terms

Blood Group Antigens Color Perception Fabry Disease/enzymology,genetics Female Fibroblasts/enzymology Galactosidases/analysis,deficiency Genetic Linkage Hair/enzymology Heterozygote Humans Leukocytes/enzymology Male Models, Biological Pedigree Sex Chromosomes

Chemicals

Blood Group Antigens Galactosidases

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Ropers H H

Wienker T F

Grimm T

Schroetter K

Bender K

References (12)

12 references, click to expand

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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1977-07-00

Pages

361-70

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1685395

Subset

External Links

PubMed source PMC Full Text View journal details

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Evidence for preferential X-chromosome inactivation in a family with Fabry disease.

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