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Williams-Beuren syndrome

MIM.194050 7q11.23

Wednesday 24 September 2003

Definition: Williams-Beuren syndrome (WBS) is a contiguous gene deletion syndrome that results from a heterozygous deletion of contiguous genes aorund the elastin locus at 7q11.23. Autosomal dominant disease.

Synopsis

- short stature
- intrauterine growth retardation
- medial eyebrow flare ,
- flat midface ,
- periorbital fullness (puffy eyes ),
- epicanthal folds ,
- long philtrum
- stellate pattern of iris
- nasal bridge
- anteveted nares
- thick lips
- hypodontia
- microdontia

- cardiovascular malformations

-  vascular anomalies

- vocal cord paralysis
- pectus excavatum
- inguinal hernia
- digestive diverticulosis

- urinary anomalies

- skeletal anomalies

  • kyphoscoliosis
  • joint limitation
  • hallux valgus

- cerebral anomalies

  • periventricular nodular heterotopia (16691586)
  • mental retardation (average IQ 56)
  • relative sparing of language
  • poor visual-motor integration (Range 41-80)
  • hypersensitivity to sound
  • behavioral/psychiatric manifestations
  • attention deficit disorder

- hypoplastic nails
- hoarse voice
- hypercalcemia

Cytogenetics

- hemizygous deletion at 7q11.23

Etiology

- Contiguous genes deletion syndrome at the 7q11.23 associating mutations in

  • ELN , the elastin gene (MIM.130160)
  • LIMK1 , the LIM domain kinase 1 gene (MIM.601329)
  • RFC2 , the replication factor C2 (MIM.600404)
  • WSTF gene
  • FKBP6 gene

References

- Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R229-37. PMID: 12952863

- Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S. The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome. Cell. 2003;113(7):905-17. PMID: 12837248

- Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet. 1999;8(10):1947-54. PMID: 10469848


- MIM.194050