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.
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.
All reviewed researches were coherent in connecting
SOPH syndrome with NBAS gene mutations.
Biological pathogen of the SOPH syndrome is NBAS gene.
Keywords : SOPH syndrome, NBAS gene, optic atrophy, PHA, mutation, short stature, ALF, and phenotype