Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

A Botta; G Novelli; A Mari; A Novelli; M Sabani; J Korenberg; L R Osborne; M C Digilio; A Giannotti; B Dallapiccola

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

J Med Genet. 1999 Jun;36(6):478-80.

Authors

A Botta¹, G Novelli, A Mari, A Novelli, M Sabani, J Korenberg, L R Osborne, M C Digilio, A Giannotti, B Dallapiccola

Affiliation

¹ Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Italy.

PMID: 10874638
PMCID: PMC1734394

Abstract

We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker D7S1870. This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into understanding the genotype-phenotype correlation in WS.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Antigens, Surface / genetics
Child
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 7 / genetics*
Female
Frizzled Receptors
Genotype
Humans
In Situ Hybridization, Fluorescence
Male
Nerve Tissue Proteins / genetics
Phenotype
Physical Chromosome Mapping
Receptors, Cell Surface / genetics
Receptors, G-Protein-Coupled*
Syntaxin 1
Williams Syndrome / genetics*
Williams Syndrome / pathology

Substances

Antigens, Surface
FZD3 protein, human
Frizzled Receptors
Nerve Tissue Proteins
Receptors, Cell Surface
Receptors, G-Protein-Coupled
STX1A protein, human
Syntaxin 1