MYH7 mutation identified by next-generation sequencing in three infant siblings with bi-ventricular noncompaction presenting with restrictive hemodynamics

Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...

Jejunal Cancer with WRN Mutation Identified from Next-Generation Sequencing: A Case Study and Minireview

Small bowel cancer is a rare, gastrointestinal cancer originating from the small intestines. Carcinogenesis in the jejunum, the middle segment of the small intestines, occurs less commonly than in the duodenum and ileum. Despite the increasing incidences globally, the cancer is still poorly understood, which includes lack of pathological understanding and etiological reasoning, as it seems to e...

Novel mutation in exon 14 of the sarcomere gene MYH7 in familial left ventricular noncompaction with bicuspid aortic valve.

A 49-year-old man with bicuspid aortic valve (BAV) and mild-to-moderate aortic valvular stenosis was referred for investigation of a dilated cardiomyopathy. At the time of presentation, he was physically active, New York Heart Association class I. Physical examination revealed a grade III/ VI harsh crescendo-decrescendo murmur at right upper sternal border radiating to both carotids. His 12-lea...

Adult bi-ventricular noncompaction cardiomyopathy.

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.

To the Editor : Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3 and RAD21 ) or Xlinked (SMC1A and HDAC8 ) congenital disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability and limb malformations (1). Currently, mutations in about 70% of the patients studied have been identified (1). However, recent studies have found l...