TY - JOUR
T1 - Deletion involving the TWIST locus and the HOXA cluster
T2 - A contiguous gene syndrome on 7p?
AU - Kosaki, Rika
AU - Higuchi, Masataka
AU - Mitsui, Norimasa
AU - Matsushima, Kazushige
AU - Ohashi, Hirofumi
AU - Kosaki, Kenjiro
PY - 2005/3
Y1 - 2005/3
N2 - Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7pl5.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(pl5.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers. Using fluorescence in situ hybridization, we demonstrated the deletion to encompass the TWIST locus and the HOXA cluster. We suggest that many, if not all, of the features of this patient could be accounted for by combined haploinsufflciency of the TWIST and HOXA cluster. Hence, the patient's phenotype may define a new contiguous gene syndrome on 7p.
AB - Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7pl5.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(pl5.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers. Using fluorescence in situ hybridization, we demonstrated the deletion to encompass the TWIST locus and the HOXA cluster. We suggest that many, if not all, of the features of this patient could be accounted for by combined haploinsufflciency of the TWIST and HOXA cluster. Hence, the patient's phenotype may define a new contiguous gene syndrome on 7p.
KW - Contiguous gene deletion syndrome
KW - HOX
KW - Hand-foot-genital syndrome
KW - Saethre-Chotzen syndrome
KW - TWIST
UR - http://www.scopus.com/inward/record.url?scp=21344438135&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=21344438135&partnerID=8YFLogxK
U2 - 10.1111/j.1741-4520.2005.00059.x
DO - 10.1111/j.1741-4520.2005.00059.x
M3 - Article
C2 - 15737130
AN - SCOPUS:21344438135
SN - 0914-3505
VL - 45
SP - 35
EP - 38
JO - Congenital anomalies
JF - Congenital anomalies
IS - 1
ER -