DAX1 mutations map to putative structural domains in a deduced three-dimensional model

Article Abstract:

Most genetic changes in DAX1 (ital) are frameshift or nonsense mutations. It is speculated that the missense mutations and codon deletion give insight into the structure and function of DAX1. To locate single-amino-acid changes in a DAX1 structural model and to identify DAX1 (ital) mutations in a series of families and determine the kinds of mutations that result in adrenal hypoplasia congenita (AHC), 17 families with AHC were studied. The DAX1 protein is an orphan nuclear hormone receptor based on sequence similarity in the putative ligand-binding domain (LBD). DAX1 (ital) mutations map to putative structural domains in a deduced three-dimensional model.

Proteins, Cell receptors, Puberty, Hypogonadism, Adrenal gland diseases

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Mutation analysis of EBE3A in Angelman syndrome patients

Article Abstract:

Mutation analysis has been carried out for EBE3A in patients with Angelman syndrome (AS). UBE3A coding-region mutations detected by SSCP analysis in 13 AS individuals or families have been described and two identical de novo 5-bp duplications were found in exon 16. In two familial cases and in one sporadic one mosaicism for UBE3A mutations was found. AS comes from maternal chromosome 15q11-q13 deletions, by imprinting defects, by paternal one-parent disomy (UPD) 15, and by mutations in the UBE3A gene.

Mosaicism, Mental retardation, Prader-Willi syndrome

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Gene tests: integrating genetic services into patient care

Article Abstract:

Roberta A. Pagon achieved the 2006 ASHG award for excellence in human genetics education for his work on the GeneTest project that gives information for health care providers to help integrate genetic services into patient care.

Achievements and awards, Geneticists, Patients, Patient care, Genetic research

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