The unfolding clinical spectrum of POLG mutations

The unfolding clinical spectrum of POLG mutations.

BACKGROUND Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions. OBJECTIVE To determine the spectrum of POLG mutations in our Dutch patient cohort, to evaluate the pathogenicity of novel mutations, and to establish genotype-phenotype correlations. RESULTS The authors ide...

THE SPECTRUM OF BETA – THALASSEMIA MUTATIONS IN IRAN

POLG mutations and age at menopause.

Bennett CE, Conway GS, Macpherson JN, Jacobs PA, Murray A. Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. Hum Reprod 2010;25:1335–1338. Chen LS, Tassone F, Sahota P, Hagerman PJ. The (CGG)n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream rep...

Insulin mutations in diabetes: the clinical spectrum.

Studies of monogenic disorders of -cell function have yielded important information on -cell physiology and have improved the diagnosis and treatment of patients with these rare diseases. These disorders include defects associated with increased insulin secretion, causing hypoglycemia, and decreased insulin secretion, resulting in diabetes. The most common form of monogenic diabetes is so-calle...

Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features

PURPOSE To assess the frequency and clinical features of childhood-onset intractable epilepsy caused by the most common mutations in the POLG gene, which encodes the catalytic subunit of mitochondrial DNA polymerase gamma. METHODS Children presenting with nonsyndromic intractable epilepsy of unknown etiology but without documented liver dysfunction at presentation were eligible for this prosp...