ABSTRACT
Neuroblastoma-amplified sequence (NBAS) is a highly conserved gene firstly found in neuroblastoma, targeting on the human chromosome 2 p24.3 and encodes a protein that is a subunit of the Syntaxin 18 complex. The functions of NBAS include the involvement in transport of Golgi-to-Endoplasmic Reticulum retrograde and degradation of nonsense-mediated mRNA. NBAS gene is widely expressed in more than 30 tissues, suggesting that it may play an important role in human body. In 2010 and 2015, NBAS was identified successively as the pathogenic gene of SOPH syndrome and fever-related liver failure respectively. Recent studies shows that NBAS gene mutations can involve immune system and cause immune deficiency. In this paper, we review the biological function of NBAS, NBAS gene mutation-related diseases and their pathogenesis in recent years.
ABSTRACT
Objective To analysis the clinical features, diagnosis and treatment of Hutchinson-Gilford progeria syndrome (HGPS). Methods The clinical data and gene testing results of HGPS in two brothers in the same family were retrospectively analyzed. The related literatures were reviewed. Results The proband was 15 years old, and his younger brother was 6 years old. Both of them presented premature appearance at 4 years old and 1 year-old respectively. Both of them suffered from underweight, short stature, reduced subcutaneous fat, bird face (prominent eyes, facial skin, scalp veins exposure, hook and prominent nose, mandibular stenosis). In addition, their trunk and limbs skin was relaxation, and they had ankylosis,and shrill voice etc.In both of them,the compound heterozygous mutation of NBAS gene(c.4081C>T,c.5741C>T)were found by full sequence exon sequencing, which were inherited from their father and mother respectively. The literature review suggested that NBAS gene mutation was associated with the diseases with main phenotype of short stature and optic atrophy.Conclusions It is reported two cases of HGPS caused by NBAS gene mutation.It is rare that two brothers have HGPS.