Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.

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.
AuthorsR Happle
JournalJournal of the American Academy of Dermatology (J Am Acad Dermatol) Vol. 16 Issue 4 Pg. 899-906 (Apr 1987) ISSN: 0190-9622 [Print] UNITED STATES
PMID3033033 (Publication Type: Journal Article)
  • Abnormalities, Multiple (genetics)
  • Angiomatosis (genetics)
  • Female
  • Fibrous Dysplasia, Polyostotic (genetics)
  • Genes, Lethal
  • Humans
  • Infant, Newborn
  • Klippel-Trenaunay-Weber Syndrome (genetics)
  • Male
  • Mosaicism
  • Pigmentation Disorders (genetics)
  • Skin Abnormalities
  • Syndrome

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!

Choose Username:
Verify Password: