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PMID: 3770739 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

Human genetics ·Vol. 74 ·No. 2 ·1986-10-00 ·Pages 107-12

Stefanini M, Lagomarsini P, Arlett CF, Marinoni S, Borrone C, Crovato F, Trevisan G, Cordone G, Nuzzo F

Abstract

We studied the response to UV irradiation in cells from four patients, from three apparently unrelated families, affected by trichothiodystrophy (TTD). They showed all the symptoms of this rare autosomal recessive disorder (brittle hair with reduced sulfur content, mental and physical retardation, ichthyosis, peculiar face) together with photosensitivity. We found a decreased rate of duplicative DNA synthesis in stimulated lymphocytes, reduced survival in fibroblasts, and very low levels of unscheduled DNA synthesis (UDS) in Go lymphocytes and fibroblasts after UV irradiation. Complementation studies showed that normal values of UDS are restored in heterokaryons obtained by fusion of TTD cells with normal and xeroderma pigmentosum (XP)-complementation group A-cells. In contrast the defect is not complemented by fusion with XP-complementation group D-fibroblasts.

MeSH Terms
Cells, Cultured Child Child, Preschool Chromosomes, Human, 13-15 DNA Damage/radiation effects DNA Replication/radiation effects Female Hair/metabolism Hair Diseases/congenital,genetics Humans Mutation Photosensitivity Disorders/genetics Sulfur/metabolism Syndrome Ultraviolet Rays Xeroderma Pigmentosum/genetics
Chemicals
Sulfur
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Stefanini M
Lagomarsini P
Arlett C F
Marinoni S
Borrone C
Crovato F
Trevisan G
Cordone G
Nuzzo F
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34 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00282072
Published
1986-10-00
Pages
107-12
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00282072 View journal details
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