Introduction: Cantu syndrome is one of the rare genetic syndromes. Formally, there are no diagnostic criteria for syndrome, but given characteristic appearance and reproducible features in people with a mutation ABCC9 gene, conventional clinical picture that may suggest diagnosis high probability. This publication presents case study two-week-old female patient who was qualified testing on basi...

fibrodysplasia ossificans progressiva (fop, mim 135100) is a rare genetic disease that is often inherited sporadically in an autosomal dominant pattern. the disease manifests in early life with malformed great toes and, its episodic and progressive bone formation in skeletal muscle after trauma is led to extra-articular ankylosis. in this study, a 17 year-old affected girl born to a father with...

We report a large family with an isolated case of Huntington's disease (HD), which is probably the result of a new mutation. The patient developed clinical signs typical of HD at the age of 36. The clinical course of the patient's disease is documented by several clinical admissions over a period of 14 years at present. The family history is strikingly negative with the parents having been clea...

autosomal polycystic kidney disease (adpkd) is a genetic disorder with two causal pkd-1 and pkd-2. genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in african populations. we report a new mutation found in a 41-year old women with mild chronic kidney disease secondary to adpkd. molecular genetic testing found a del...

The main objective for plant breeding is to increase genetic diversity. Mutation induction is a method to increase genetic diversity associated with selection, recombination, or a combination of these approaches in plant breeding. The present research was aimed to compare efficacy of different doses of Gamma rays (150, 200, 250, 300 and 350 Gy and zero dose control) on the sesame morphological ...

Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...

This article is concerned with a statistical modeling procedure to call single-feature polymorphisms from microarray experiments. We use this new type of polymorphism data to estimate the mutation and recombination parameters in a population. The mutation parameter can be estimated via the number of single-feature polymorphisms called in the sample. For the recombination parameter, a two-featur...

Colonies of Schizosaccharomyces pombe that contain ascospores (e.g., colonies of homothallic strains) turn black after treatment with iodine vapors. Heterothallic strains of S. pombe normally do not show this reaction. In experiments with the latter strains we found mutants which exhibit a positive iodine reaction though they do not contain ascospores. This phenotype is due to mutations in a ne...

meduiiary thyroid carcinoma (mtc) occurs both sporadically and in the autosomal dominantly inherited multiple endocrine neoplasia (men) type 2 syndromes. the distinction between true sporadic mtc and a new mutation familial case is important for future clinical management of both the patient and family. the susceptibility gene for hereditary mtc is the ret proto-oncogene. dna analysis for germl...