Document Detail

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.
MedLine Citation:
PMID:  3033033     Owner:  NLM     Status:  MEDLINE    
A genetic concept is advanced to explain the origin of several sporadic syndromes characterized by a mosaic distribution of skin defects. It is postulated that these disorders are due to the action of a lethal gene surviving by mosaicism. The presence of the mutation in the zygote will lead to death of the embryo at an early stage of development. Cells bearing the mutation can survive only in a mosaic state, in close proximity with normal cells. The mosaic may arise either from a gametic half chromatid mutation or from an early somatic mutation. This concept of origin is proposed to apply to the Schimmelpenning-Feuerstein-Mims syndrome, the McCune-Albright syndrome, the Klippel-Trenaunay syndrome, the Sturge-Weber syndrome, and neurocutaneous melanosis. Moreover, this etiologic hypothesis may apply to two other birth defects that have recently been delineated, the Proteus syndrome (partial gigantism of hands or feet, hemihypertrophy, macrocephaly, linear papillomatous epidermal nevus, subcutaneous hemangiomas and lipomas, accelerated growth, and visceral anomalies), and the Delleman-Oorthuys syndrome (orbital cyst, porencephaly, periorbital appendages, and focal aplasia of the skin.
R Happle
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of the American Academy of Dermatology     Volume:  16     ISSN:  0190-9622     ISO Abbreviation:  J. Am. Acad. Dermatol.     Publication Date:  1987 Apr 
Date Detail:
Created Date:  1987-06-01     Completed Date:  1987-06-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7907132     Medline TA:  J Am Acad Dermatol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  899-906     Citation Subset:  IM    
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MeSH Terms
Abnormalities, Multiple / genetics
Angiomatosis / genetics
Fibrous Dysplasia, Polyostotic / genetics
Genes, Lethal*
Infant, Newborn
Klippel-Trenaunay-Weber Syndrome / genetics
Pigmentation Disorders / genetics
Skin Abnormalities*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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