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We analyzed mutations of the GPC3gene in seven males with typical manifestations of Simpson-Golabi-Behmel syndrome (SGBS). Genomic DNA was PCR amplified for its all eight exons and exon-intron boundaries using designed set of primers, and PCR products were directly sequenced. All seven males studied had mutations: One patient had a large deletion spanning introns 6 and 7, four each had a C --> T base substitution resulting in a stop codon formation in exons 2, 3, and 4, one had a single-base insertion in exon 2, and the other had a six-base deletion and a three-base insertion in exon 3; all resulting in loss-of-function of the glypican-3 protein. These results, together with previous studies of GPC3 mutations, indicate that there is no hot spot for GPC3 mutations or deletions in the patients with the syndrome. Also, no correlation has been noted between the location and nature of mutations and the phenotype of the patients studied, as is the case of the present study., ((c) 2007 Wiley-Liss, Inc.)

Unlabelled: A 13-year-old Japanese boy with pituitary prolactinoma whose growth had been retarded for more than 2 years was treated with bromocriptine alone for 140 weeks. After treatment, the serum level of prolactin, which was 1200 ng/ml before treatment, returned to normal and the pituitary tumour seen on the initial brain MRI had rapidly decreased in size after 16 weeks of treatment. Thereafter, his height improved (from -2.1 to -1.7 SDS)., Conclusion: the favourable response obtained in this patient implies that bromocriptine monotherapy can be an effective first-line treatment for children with prolactinoma., (Copyright 2004 Springer-Verlag)

We report a 4-year-old boy, a 6-month-old girl, and a 17-week-old fetus all with a chromosomal imbalance derived from a balanced translocation t(13;15)(q34;q26.1) of their father. The boy had a partial trisomy for 15q26.1-qter (46,XY,der(13)t(13;15)(q34;q26.1)) and postnatal overgrowth, as well as craniosynostosis, facial anomalies, and finger joint contractures, while the girl with the same chromosomal aberration did not show overgrowth, although she had similar craniofacial and skeletal abnormalities. The fetus had a partial monosomy for 15q26.1-qter and intrauterine growth retardation (IUGR). Fluorescence in situ hybridization (FISH) analysis with a BAC clone covering the insulin-like growth factor 1 receptor gene (IGF1R) that is located to 15q25-q26 revealed three copies in the boy, one copy in the fetus, and two copies in their phenotypically normal father. Since deletion of IGF1Rhas repeatedly been reported to be associated with IUGR, it is tempting to speculate that the dosage of IGF1R may have determined growth in these children., (Copyright 2002 Wiley-Liss, Inc.)