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Williams-Beuren syndrome (WBS)

GTF2I is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2I may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Williams syndrome (WS or WMS; also Williams–Beuren syndrome or WBS) is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia.
It is caused by a deletion of about 26 genes from the long arm of chromosome 7. The syndrome was first identified in 1961 by Dr. J. C. P. Williams of New Zealand and has an estimated prevalence of 1 in 7,500 to 1 in 20,000 births.

The most common symptoms of Williams syndrome are mental disability, heart defects, and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy and low muscle tone. Most individuals with Williams syndrome are highly verbal and overly sociable, having what has been described as a "cocktail party" type personality, and exhibit a remarkable blend of cognitive strengths and weaknesses.

TYPE: facial anomalies, mental retardation (MR)

Related patway(s): transcription factors

DNAtraffic protein(s) related to disease: GTF2I, GTF2IRD1

OMIM: 194050

Last modification date: Oct. 8, 2011