TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.
Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly III, is an autosomal dominant hereditary disorder characterized by craniofacial and limb anomalies. SCS is generally caused by mutations in the TWIST gene, but several 7p21.3 microdeletions involving the entire gene have also been described. The patient reported here presented with craniosynostosis, ptosis, brachydactyly and syndactyly of toes. Standard lymphocyte karyotype showed a de novo apparently balanced but complex constitution with a translocation between the short arms of chromosomes 2 and 7 and an insertion of the 7(q21.3q22) band in the short arm of the same chromosome 7. Interestingly, array CGH displayed a unique 690 kb deletion in 7p21.3 involving the TWIST gene, consistent with the phenotype. This case illustrates the important contribution of array CGH to identification of complex chromosomal rearrangements.
Schluth-Bolard
Caroline
C
Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle - Centre de Biologie et de Pathologie Est, 59 Boulevard Pinel, Bron 69677 Cedex, France.
Till
Marianne
M
Labalme
Audrey
A
Rey
Catherine
C
Banquart
Emmanuelle
E
Fautrelle
Anne
A
Martin-Denavit
Tanguy
T
Le Lorc'h
Marc
M
Romana
Serge Pierrick
SP
Lazar
Vladimir
V
Edery
Patrick
P
Sanlaville
Damien
D
D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D015321:Gene Rearrangement; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D051879:Twist-Related Protein 1 / Q000235:genetics*
D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1