Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

• Published in: American journal of medical genetics Vol. 86; no. 1; p. 34
• Main Authors: Wang, M S, Schinzel, A, Kotzot, D, Balmer, D, Casey, R, Chodirker, B N, Gyftodimou, J, Petersen, M B, Lopez-Rangel, E, Robinson, W P
• Format: Journal Article
• Language: English
• Published: United States 03.09.1999
• Subjects: Alleles; Birth Weight; Chromosomes, Human, Pair 7 - genetics; Elastin - genetics; Female; Gene Frequency; Genomic Imprinting - genetics; Genotype; Humans; Hypercalcemia; Infant, Newborn; Lim Kinases; Linkage Disequilibrium; Male; Phenotype; Polymorphism, Genetic - genetics; Protein Kinases - genetics; Sequence Deletion - genetics; Weight Gain; Williams Syndrome - etiology; Williams Syndrome - genetics; Williams Syndrome - physiopathology
• ISSN: 0148-7299
• DOI: 10.1002/(SICI)1096-8628(19990903)86:1<34::AID-AJMG7>3.0.CO;2-4

Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investigated for associations with clinical outcome. In an analysis of 85 confirmed deletion cases, no statistically significant associations were found after Bonferroni's correction for multiple pairwise comparisons. Furthermore, the present data do not support presence of imprinted genes in the WBS common deletion despite a nonsignificant excess of maternal over paternal deletions. Maternal deletion cases were more likely to have a large head circumference in the present data. Also, pairwise comparisons between individual WBS clinical features have been conducted and revealed significant associations between (1) low birth weight and poor postnatal weight gain (<10th percentile at the time of examination) and (2) transient infantile hypercalcemia and a stellate iris pattern. The latter association could indicate a common underlying etiology.