Whole-Exome Sequencing Reveals a Recurrent D401N Mutation in the COMP gene that Causes Multiple Epiphyseal Dysplasia: (PRJFGS) - Lupine Publishers

Whole-Exome Sequencing Reveals a Recurrent D401N Mutation in the COMP gene that Causes Multiple Epiphyseal Dysplasia by Han Xiao in Peer Reviewed Journal of Forensic & Genetic Sciences (PRJFGS) in Lupine Publishers

Multiple epiphyseal dysplasia (MED) is a rare osteochondrodysplasia characterized by moderate short limb dwarfism and earlyonset osteoarthrosis. By whole-exome sequencing (WES), we identified a dominantly inherited mutation (c.1201G>A; p.D401N) in cartilage oligomeric matrix protein (COMP) in a large four-generation Chinese family. Immunofluorescence analysis revealed mutant COMP secretion was severely impaired. Our result expands the mutational spectrum of COMP and provides strong evidence for the genotype-phenotype correlation of COMP pathogenicity in MED.

https://www.lupinepublishers.com/prjfgs/abstracts/PRJFGS.MS.ID.000113.php

https://www.lupinepublishers.com/prjfgs/fulltext/PRJFGS.MS.ID.000113.php

https://www.lupinepublishers.com/prjfgs/pdf/PRJFGS.MS.ID.000113.pdf

Genetic Counseling and Testing for Colorectal Cancer in Young Adults: Mini-Review: (PRJFGS)- Lupine Publishers

Genetic Counseling and Testing for Colorectal Cancer in Young Adults: Mini-Review by Ethem Unal in Peer Reviewed Journal of Forensic & Genetic Sciences (PRJFGS) in Lupine Publishers.

Abstract
Colorectal cancer (CRC) has one of the largest proportions of familial cases. Two to 5% of all colon cancers arise in the setting of inherited syndromes, including Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), familial adenomatous polyposis (FAP), attenuated FAP, MUTYH-associated polyposis (MAP), and certain hamartomatous polyposis conditions like Peutz-Jeghers syndrome (PJS) and juvenile polyposis syndrome (JPS). All of these conditions are inherited, autosomal dominant disorders, except MAP, which is autosomal recessive [l]. Although clinical similarities do exist, each has different cancer risks, characteristic clinical features, and separate genetical etiologies. In addition to these syndromes, up to 30 % of colon cancers exhibit increased familial risk, likely related to inheritance. A number of less penetrant, but possibly more frequent susceptibility genes have been identified for this level of inheritance. Determination of predisposing genes allows for accurate risk assessment and more precise screening approaches. Examples include common polymorphisms in genes that regulate metabolism or genes that are regulated by environmental or other genetic factors.

http://www.lupinepublishers.com/prjfgs/abstracts/PRJFGS.MS.ID.000109.php
http://www.lupinepublishers.com/prjfgs/fulltext/PRJFGS.MS.ID.000109.php
http://www.lupinepublishers.com/prjfgs/pdf/PRJFGS.MS.ID.000109.pdf