Is That a Pathogenic Mutation, a Rare Non-pathogenic Variant, or Don't You Know?

Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth

Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease types based on clinical presentation and electrophysiological studies alone. In recent years, novel genetic diagnostic approaches such as whole exom...

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...

Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?

Keratin 6b variant p.Gly499Ser reported in delayed‐onset pachyonychia congenita is a non‐pathogenic polymorphism

Dear Editor, Pachyonychia congenita (PC) is an ultra-rare hereditary skin disorder primarily characterized by severe, painful and highly debilitating plantar keratoderma, variable hypertrophic nail dystrophy, epidermal cysts, leukokeratosis and other features. PC is caused by heterozygous dominant-negative mutations in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16 or KRT17 (encoding...

Is Mitochondrial tRNAphe Variant m.593T>C a Synergistically Pathogenic Mutation in Chinese LHON Families with m.11778G>A?

Mitochondrial transfer RNA (mt-tRNA) mutations have been reported to be associated with a variety of diseases. In a previous paper that studied the mtDNA background effect on clinical expression of Leber's hereditary optic neuropathy (LHON) in 182 Chinese families with m.11778G>A, we found a strikingly high frequency (7/182) of m.593T>C in the mitochondrially encoded tRNA phenylalanine (MT-TF) ...