Indian Journal of Genetics and Molecular Research

Vascular endothelial growth factor (VEGF) is a growth factor gene primarily responsible for  angiogenesis, and is now hypothesized to play a role in neurodegeneration and neuroregeneration in peripheral neuropathies. The aim of this short communication was to highlight the role of VEGF in diabetic peripheral neuropathy (DPN). There is limited but sufficient evidence for role of VEGF in pathogenesis, and abnormal VEGF levels were found on assessment of DPN. Treatments with VEGF had reversed electrophysiological measures in DPN and also other treatments such as Frequency Modulated Electrical Muscle Stimulation (FREMS) was shown to increase VEGF levels, thus reiterating the diagnostic, therapeutic and prognostic role of VEGF in DPN. 

Keywords: Neurotrophic factors; VEGF; Vasa nervorum; Diabetic neuropathy. 

 Achondroplasia is a very rare condition where a child is diagnosed with dwarfism. It is the most common type of dwarfism. It is caused by an autosomal dominant gene. “Little People”, as they refer to themselves, are not mentally retarded, nor do they have any other mental disabilities due to the disorder. 

Keywords: Achondroplasia; Autosomal dominant gene; Short stature.

Androgen Insensitivity Syndrome occurs as the genetic defects determine a resistance to the actions of the androgen hormones, which in turn switches the development towards the aspect of a woman. Mutations in the AR located on the X chromosome are responsible for the disease. Here, we describe two siblings affected with CAIS with normal AR gene. 

Keywords: AIS; Testicular feminization syndrome; AR gene.

 13qsyndrome is known to have widely variable manifestation of brain and heart, anal atresia, and anomalies of face and limbs. Here we describe a case with penoscrotal inversion, hypospadias,  imperforate anus and a subtelomeric deletion of chromosome 13q. In addition, he had unilateral renal agenesis. We propose that these patients represent a clinically recognizable, novel chromosomal microdeletion syndrome. The findings indicate the presence of a major gene(s) on chromosome 13q22 that regulate(s) the migration and development of anorenogenital cells and organs. We speculate that mutations of this developmental gene(s) may also result in more frequent congenital malformations (isolated hypospadias, uterus bicornis, unilateral renal agenesis).

Keywords: Chromosome 13; Imperforate anus; Penoscrotal transposition.

 Down syndrome (trisomy 21) is considered to be the most frequent etiology of mental retardation and it is the predominant reason for women seeking prenatal diagnosis. The current gold standard for diagnosis of trisomy 21 is provided by invasive sampling of fetal genetic material through chorionic villus sampling (CVS) or amniocentesis followed by conventional cytogenetic. Now in present molecular era various  molecular techniques have been developed for rapid diagnosis of Down syndrome. In review the principles, pros and cons of various techniques involved in invasive and noninvasive prenatal diagnosis of Down syndrome are discussed. 

Keywords: Down syndrome; Trisomy 21; Prenatal diagnosis.

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