Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.

Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. Although a combination of molecular methods have been used including DNA sequencing of all 10 exons and exon-intron boundaries of OTC gene, only approximately 80% of patients with OTC deficiency are found to have mutations. We report two known and three novel mutations of the OTC gene in five Japanese patients including two neonatal-onset, one late-onset, and two symptomatic female patients.

Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production.

Tetrasomy 9p is a rare clinical syndrome and about 30% of known cases exhibit chromosome mosaicism. The cases with tetrasomy 9p mosaicism have been reported to show the various phenotypes. On the other hand, Klinefelter syndrome is well recognized chromosomal abnormality caused by an additional X chromosome in males (47,XXY), and the characteristic clinical findings include tall stature, immaturity of external genitalia, testicular dysfunction.

High level of ezrin mRNA expression in an osteosarcoma biopsy sample with lung metastasis.

Osteosarcoma (OS) remains a life-threatening malignancy and its molecular character is not fully understood. Ezrin is a cytoskeleton linker protein involved in regulating the growth and metastatic capacity of cancer cells. However, the correlation between ezrin mRNA expression and clinical severity has not yet been examined in OS biopsy samples.

[A case of hypothalamic hamartoma with refractory seizures: successful treatment with gamma knife surgery].

Hypothalamic hamartomas are associated with precocious puberty and gelastic epilepsy. The seizures are often refractory to antiepileptic medications. The treatment of hamartoma is not well established.