RT Journal Article
SR Electronic
T1 Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 784
OP 786
DO 10.1136/jmg.35.9.784
VO 35
IS 9
A1 T Eggermann
A1 K Eggermann
A1 S Mergenthaler
A1 R Kuner
A1 P Kaiser
A1 M B Ranke
A1 H A Wollmann
YR 1998
UL http://jmg.bmj.com/content/35/9/784.abstract
AB In a continuing study on the aetiology of Silver-Russell syndrome (SRS), we detected a patient with a heterozygous deletion in the growth hormone gene cluster (17q22-q24). The deletion of the chorionic somatomammotrophin hormone 1 (CSH1) gene was inherited from the patient's father. The patient shows typical symptoms of SRS. Though deletions of CSH1 have been reported without any phenotypic consequences, the heterozygous deletion might be involved in the aetiology of SRS in the case presented here. Apart from other observations in SRS, like maternal uniparental disomy 7, changes in the genomic region 17q22-qter might be responsible for the expression of this syndrome for at least some of the patients, leading to the heterogeneity of SRS.