The Connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short StatureOptic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) Literature Review

Authors : Jia Yean Thong; Alice Halim; Zifeng Li; Michael Halim

Volume/Issue : Volume 6 - 2021, Issue 2 - February

Google Scholar :

Scribd :

Clinical and natural heterogeneity is the main characteristic of inherited multisystem conditions with severe growth restriction. Nonetheless, the source of the originof these diseases are not completely investigated. Afore-mentioned afflictions are widespread among the population of Yakuts, located in the Republic of Sakha, which belongs to Russian Federation. Among the Yakuts, these conditions remarked by acute postnatal development hindrance, brachydactyly, optic atrophy (impairment of visual acuteness and color reflection), Pelger-Huet incongruity of WBCs and craniofacial dysmorphism but with average level of intelligence (1). Other features encompass chronic liver failure, underdeveloped cheekbones, loose skin, skeletal deformities and diminished tissue turgor (2). Purpose of Study. The overall objective of this research paper is to locate the gene that causes SOPH disorder. Methods The study uses secondary data from scientific journals published in authoritative databases, PubMed indexed in this case. The journal articles provide scientific investigations and information about the SOPH disease, NBAS gene and other relevant themes. A population sample of 129 individuals from five published research journals was considered. Results All reviewed researches were coherent in connecting SOPH syndrome with NBAS gene mutations. Conclusion Biological pathogen of the SOPH syndrome is NBAS gene.

Keywords : SOPH syndrome, NBAS gene, optic atrophy, PHA, mutation, short stature, ALF, and phenotype


Paper Submission Last Date
31 - August - 2022

Paper Review Notification
In 1-2 Days

Paper Publishing
In 2-3 Days

Never miss an update from Papermashup

Get notified about the latest tutorials and downloads.

Subscribe by Email

Get alerts directly into your inbox after each post and stay updated.

Subscribe by RSS

Add our RSS to your feedreader to get regular updates from us.