The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review

Thong, JY; Halim, A; Li, Z; Halim, M

Abstract

Background.
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.

Citation

Thong, J., Halim, A., Li, Z., & Halim, M. (2021). The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review. International journal of innovative science and research technology, 6(2), 52-61

• Journal Article Type: Article
• Online Publication Date: Feb 15, 2021
• Publication Date: Feb 15, 2021
• Deposit Date: Apr 23, 2021
• Publicly Available Date: Apr 23, 2021
• Journal: International Journal of Innovative Science and Research Technology
• Volume: 6
• Issue: 2
• Pages: 52-61
• Publisher URL: https://www.ijisrt.com/the-connection-between-neuroblastoma-amplified-sequence-gene-nbas-and-the-short-statureopticatrophypelgerhuet-anomaly-syndrome-soph-literature-review
• Related Public URLs: https://www.ijisrt.com/