Author's response to reviews Title:Identification of a Novel Mutation in MMACHC and Development of a New Prenatal Diagnostic Technique Using Genetic Sequencing Authors:

Author's response to reviews Title:Prenatal Diagnosis Using Genetic Sequencing and Identification of a Novel Mutation in MMACHC Authors:

Answer: I have revised the title to “Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC”, as the reviewer recommended to make it more accurate and concise. As the reviewer pointed out, the technique used in our study was standard methodology for chorionic villi sample-based prenatal genetic diagnosis. It is not a new prenatal diagnostic technique either...

CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report

Background CombinedMethylmalonic Aciduria (MMA), and homocystinuria CblC type is the most common inborn error of cobalamin metabolism with 77 mutations identified till date in the MMACHC gene. The disease has early and late presentations with varied clinical features. Case report A pair of preterm monochorionic twins was born to non-consanguineous parents with history of 2 previous infant deat...

Identification of the rs797045105 in the SERAC1 gene by Whole-Exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

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 ...

Author's response to reviews Title:Identification of co-expression gene networks, regulatory genes and pathways for obesity based on adipose tissue RNA Sequencing in a porcine model Authors:

Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease

Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...