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

Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable an d therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1 ) alleles, gender, and parental origin of deletion have been investigated f or associations with clinical outcome. In an analysis of 85 confirmed delet ion cases, no statistically significant associations were found after Bonfe rroni's correction for multiple pairwise comparisons. Furthermore, the pres ent data do not support presence of imprinted genes in the WBS common delet ion despite a nonsignificant excess of maternal over paternal deletions. Ma ternal deletion cases were more likely to have a large head circumference i n the present data. Also, pairwise comparisons between individual WBS clini cal features have been conducted and revealed significant associations betw een (1) low birth weight and poor postnatal weight gain (<10th percentile a t the time of examination) and (2) transient infantile hypercalcemia and a stellate iris pattern. The latter association could indicate a common under lying etiology. Am. J. Med. Genet. 86:34-43, 1999. (C) 1999 Wiley-Liss, Inc .