The 22q11.2 deletion: from diversity to a single gene theory.
The 22q11 deletion syndromes are a group of conditions in which a characteristic spectrum of congenital cardiac defects may be associated with a wide range of noncardiological congenital anomalies. These syndromes are all linked by a deletion in the long arm of chromosome 22. Although it is a large deletion, containing many genes, recent advances have led to the belief that the etiology of the diverse abnormalities of these syndromes may be a single gene deletion. This review outlines the historical development of the various "22q deletion syndromes," including the DiGeorge, velocardiofacial, Takao, Cayler, and CATCH-22 syndromes, briefly describes the relevant cardiac embryogenesis, and then explains how a single gene deletion may encompass the full phenotypic spectrum.
De Decker
H P
HP
Department of Cardiology, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Lawrenson
J B
JB
D000015:Abnormalities, Multiple / Q000235:genetics; D033942:Adaptor Proteins, Vesicular Transport; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics; D017353:Gene Deletion; D006321:Heart / Q000196:embryology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D013577:Syndrome; D014452:Ubiquitins / Q000378:metabolism
D033942:Adaptor Proteins, Vesicular Transport; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C491497:UFD1 protein, human; D014452:Ubiquitins