Session: SAT 632-648-Pediatric Growth Case Reports
Poster Board SAT-632
Using high resolution based comparative genomic hybridization (SurePrint G3 CGH microarray 4x180K, AGilent Technologies, USA) a gain of 1 million base pairs (1Mb) within the Williams-Beuren critical region (WBCR) in 7q11.23 was revealed. Interestingly, however, only half of the region typically gained in the WBCR-syndrome was duplicated. The proximal border of the interval mapped to the Elastin gene (ELN), indicating that only the distal part of the commonly duplicated region was affected. The identical copy number change was identified in the mother.
Thus, we have identified a novel familial duplication syndrome which represents a novel atypical variant of the classical WBCR-duplication syndrome. The phenotype shows mild facial dysmorphic features extreme short stature and absence of cognitive impairment, speech disorders or autism, frequently reported in classical Williams-Beuren-syndrome. In contrast, short stature is rarely associated with the typical Williams-Beuren syndrome. Genotype-phenotype correlation in the WBCR-duplication syndrome is still ongoing and difficult due to the high phenotypic variability and incomplete penetrance of most symptoms. The presenting symptom in our family is "short stature", but the responsible gene(s) is not yet identified. To know more about genes causing short stature might help to better understand also other forms of familial short stature and might help to decide what sort of therapy might be useful. Further studies are needed to answer this question.
Nothing to Disclose: UK, JP, CN, SB
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