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Familial Williams-Beuren syndrome
1Medical Genetics Center, Tartu University Children's Hospital, Estonia. kati@dna.cut.ee
American Journal of Medical Genetics
|January 8, 1999
Summary
Familial Williams-Beuren syndrome (WBS) is rare. This report details a mother and son with WBS, highlighting genetic confirmation and uncommon WBS traits in this family.
Area of Science:
- Genetics
- Medical Genetics
- Human Genetics
Background:
- Williams-Beuren syndrome (WBS) is a rare genetic disorder typically occurring sporadically.
- While most cases are de novo, familial transmission of WBS has been documented in a limited number of instances.
Observation:
- This study presents a case of a mother and son diagnosed with typical Williams-Beuren syndrome.
- The son's WBS diagnosis was confirmed via fluorescence in situ hybridization (FISH), revealing a 7q11.23 deletion at the ELN locus.
- The mother, though not studied by FISH due to her passing, exhibited clear clinical symptoms consistent with WBS.
Findings:
- The genetic analysis confirmed a deletion of 7q11.23 at the ELN locus in the affected son.
- Uncommon WBS features were noted: unilateral renal hypoplasia in the mother and a hemivertebra at L5 in the son.
Implications:
- This familial case contributes to the understanding of WBS inheritance patterns.
- The presence of atypical features in this family may broaden the clinical spectrum recognized for Williams-Beuren syndrome.
- Further research into familial WBS cases can elucidate genetic modifiers and phenotypic variability.