Diagnosis of Williams syndrome and Williams syndrome cognitive p

Details Diagnosis of Williams syndrome and Williams syndrome cognitive p Diagnosis of Williams syndrome and Williams syndrome cognitive p

1996-07-10

1999-01-12

Sisson, Bradley L.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 911, 435 912, 536 231, 536 235, 536 2431, 536 2433, 935 76, 935 77, C12Q 168, C12P 1934, C12N 1500

Patent

active

058586628

ABSTRACT:
Williams syndrome (WS) is a developmental disorder that includes poor visuospatial constructive cognition. This syndrome has been studied to identify genes important for human cognitive development. Two families are described which have a partial WS phenotype; affected members have the specific WS cognitive profile and vascular disease, but lack other WS features. Submicroscopic chromosome 7q11.23 deletions cosegregate with this phenotype in both families. DNA sequence analyses of the region affected by the smallest (83.6 kb) deletion revealed two genes, elastin (ELN) and LIM-kinasel (LIMK1). The latter encodes a novel protein kinase with LIM domains and is strongly expressed in the brain. Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in impaired visuospatial constructive cognition.

REFERENCES:
Lowery e tal., "Strong Corelation of Elastin Deletions, Detected by Fish, with Williams Syndrome: Evaluation of 235 Patients," American Journal of Genetics, vol. 57, pp. 49-53, 1995.

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