Characterization of mutations in patients with multiple endocrine neoplasia type 1

Article Abstract:

Multiple endocrine neoplasia type 1 (MEN1) mutations have been characterized. Age-related penetrance for MEN1 has been defined as 99%, 98%, 87%, 52%, and 7%. at 60, 50, 40, 30, 20, and 10 years of age, respectively. A molecular genetic screening approach can be based on results of the study. It would supplement clinical evaluation and genetic counseling MEN1 is an autosomal dominant disorder characterized by tumors of the pancreatic islets, parathyroids and the anterior pituitary and the gene for it has been cloned. Mutations have been identified. Reliability of SSCP analysis for detection of the mutations has been established in the course of the study.

User Contributions:

Comment about this article or add new information about this topic:

Comment:  (50-4000 characters)

Name:

E-mail:

Security Code:

Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea

Article Abstract:

A study has been conducted of Korean patients with primary open-angle glaucoma (POAG). Forty-five patients were screened, and two were identified who had mutations in the TIGR/MYOC (trabecular meshwork-induced glucocorticoid-response protein/myocilin) gene. Five members of one patient's family participated in a family study. The family study suggests possible autosomal recessive inheritance of juvenile-onset POAG.

User Contributions:

Comment about this article or add new information about this topic:

Comment:  (50-4000 characters)

Name:

E-mail:

Security Code:

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations

Article Abstract:

Disease-causing mutations were found in 13 of 15 patients with mild osteogenesis imperfecta, and two probable disease-causing mutations were detected in the other two patients. Common sequences have been identified for mutations that result in null alleles. The two genes for type I procollagen, COL1A1 and COL1A2, were investigated, but mutations were found only in COL1A1.

User Contributions:

Comment about this article or add new information about this topic:

Comment:  (50-4000 characters)

Name:

E-mail:

Security Code: