• Journal of Genetic Medicine
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• v.15 no.2
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• pp.107-109
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• 2018

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not fulfill the criteria of demyelination or axonopathy. We describe a 37-year-old man with progressive bilateral leg weakness since his early teen. He suffered transient right hemiparesis, followed by quadriparesis at 14 years of age. When we examined him at 37 years of age, he presented a distal muscle weakness on lower extremities with a sensory symptom. The nerve conduction study demonstrated a motor conduction velocity between 26 and 49 m/s. The whole exome sequencing revealed a novel variant c.136 G>A in GJB1. This report will raise awareness in this rare disease, which is frequently misdiagnosed early in its course.

• Annals of Clinical Neurophysiology
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• v.24 no.2
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• pp.90-92
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• 2022

AGel amyloidosis is an autosomal dominantly inherited disease caused by a GSN mutation, and affected patients typically present with the clinical triad of corneal lattice dystrophy, progressive cranial neuropathy, and cutis laxa. We report a Korean family with AGel amyloidosis with predominant manifestations of facial and bulbar muscle weakness. Whole-exome sequencing revealed a common missense mutation (p.Asp214Tyr) in GSN. This case strongly suggests that AGel amyloidosis should be considered when a patient presents with progressive facial and bulbar palsies.

• Biomedical Science Letters
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• v.13 no.2
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• pp.141-148
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• 2007

We determined the sequences of the quinolone resistance-determining region (QRDR) of gyrA and gyrB for 21 clinical strains of Enterobacteriaceae resistant to ciprofloxacin, norfloxacin and levofloxacin. The clinical strains were isolated from the specimens of three general hospitals in Busan. In the present study, we found mutations in type II topoisomerase (DNA gyrase) genes for all strains. We confirmed that some genera of Enterobacteriaceae of clinical specimen exhibited decreased sensitivity to fluroquinolone due to changes in Ser-83$\rightarrow$Leu and Asp-87$\rightarrow$Asn types on gyrA and alterations in Glu-465$\rightarrow$Arg and Ser-492$\rightarrow$Asn type on gyrB. All the twenty-one strains had a missense mutation in gyrA (codon 83 and 87). Three of them had an additional mutation in gyrB (codon 465 or 492), but one of them had an additional mutation in gyrB (codon 426, 427, 491, 495 and 496). The strains which had two mutations in type II topoisomerase genes (gyrA and gyrB) were significantly more resistant to fluoroquinolones than those with a single mutation in gyrA (mean MICs of ciprofloxacin: $\geq8\mu$g/ml, mean MICs of levofloxacin: $\geq16\mu$g/ml). Interestingly, the examination of silent nucleotide changes n the gyrA and gyrB genes revealed six different patterns of DNA polymorphism, respectively. Fifteen strains of the twenty-one strains bearing the gyrase A mutation shared the same polymorphism and eleven strains of the twenty-one strains bearing the gyrase B mutation shared the same polymorphism.

• Clinical and Experimental Reproductive Medicine
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• v.25 no.3
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• pp.281-286
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• 1998

Premature ovarian failure is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women younger than 40 years. Many causes of premature ovarian failure were reported, including genetic abnormalities, enzymatic defects, defects in gonadotropin secretion or action, autoimmune disorders, physical and idiopathic causes. Recently, Finnish group reported a point mutation in the follicle stimulating hormone (FSH) receptor gene in premature ovarian failure patients. But it was reported that the group from United States could not find any mutation in FSH receptor gene. So we analysed C566T point mutation of FSH receptor gene using restriction fragment length polymorphism (RFLP) and compared the result between premature ovarian failure patient with idiopathic and known causes. But we did not find 556C${\rightarrow}$T mutation in the FSH receptor gene in both groups. These findings suggest that the missense mutation in the human FSH receptor gene reported in Finnish women with premature ovarian failure is uncommon in Korean women with premature ovarian failure.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.7
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• pp.3627-3629
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• 2016

Background: Activation and inactivation of nuclear factor of kappa light chain gene enhancer in B cells (NFKB) is tightly regulated to ensure effective onset and cessation of defensive inflammatory signaling. However, mutations within NFKB, or change in activation and inactivation molecules have been reported in a few cancers. Although oral squamous cell carcinoma is one of the most prevalent forms of cancer in India, with a development associated with malignant transformation of precancerous lesions, the genetic status of NFKB and relative rates of change in oral precancerous lesions remain unknown. Hence in the present study we investigated all twenty four exons of NFKB gene in two precancerous lesions, namely oral submucous fibrosis (OSMF) and oral leukoplakia (OL) to understand its occurrence, incidence and assess its possible contribution to malignant transformation. Materials and Methods: Chromosomal DNA isolated from twenty five each of OSMF and OL tissue biopsy samples were subjected to PCR amplification with intronic primers flanking twenty four exons of the NFKB gene. The PCR amplicons were subsequently subjected to direct sequencing to elucidate the mutation status. Results: Sequence analysis identified a novel heterozygous mutation, c.419T>A causing substitution of leucine with glutamine at codon 140 (L140Q) in an OL sample. Conclusions: The identification of a substitution mutation L140Q within the DNA binding domain of NFKB in OL suggests that NFKB mutation may be relatively an early event during transformation. To the best of our knowledge, this study is the first to have identified a missense mutation in NFKB in OL.

• Genes and Genomics
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• v.40 no.11
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• pp.1149-1155
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• 2018

Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly. Objective of this study was to find out novel gene or novel mutation related to the gene phenotype. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. Exome sequencing was performed in affected siblings of the family to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation study. Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene. The mutation was ruled out in 100 unrelated healthy controls. The missense variant has not yet been reported as pathogenic in literature or variant databases. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.

• Journal of Animal Science and Technology
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• v.47 no.2
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• pp.167-176
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• 2005

PIGK(phosphatidylinositol glycan, class K) is a subunit of GPI transamidase that cleaves the signal peptide in proproteins and replaces it with GPI. In addition, the structure and synthesis of GPI are critically involved in some of the cellular actions of insulin. Therefore, PIGK would be essential for mammalian development and many specific cellular functions as well as for metabolic activity of insulin associated with GPI. Two types of" full-length cDNAs of porcine PIGK were cloned through RT-PCR and RACE experiments. One is thought to be a normal form(consist of 395 amino acids) and the other is considered as an alternative spliced form(consist of 371 amino acids) which contains additional 63 bps in intron 7. Since a stop codon was contained within the insertion, the spliced form has a shorter coding sequence than that of normal form. A missense mutation (T314I) in exon 6 was detected and used for genotyping to estimate association with the growth and fat deposition traits for 545 $F_2$ animals(Korean native boars ${\times}$ Landrace). From the PCR-RFLP analysis using HpyCH4III, CT genotype showed highly significant relationship(P< 0.01) with carcass fat contents.

• Clinical and Experimental Pediatrics
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• v.57 no.9
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• pp.410-415
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• 2014

Purpose: Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1. Methods: A total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed. Results: Age of the patients at the time of NF1 diagnosis was $15.8{\pm}14.6$ years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, $Caf\acute{e}$-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: $p.Arg2517^*$, $p.Cys2371^*$; one small deletion: $p.Leu1944Phefs^*6$). Conclusion: The clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate.

• Clinical and Experimental Reproductive Medicine
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• v.27 no.2
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• pp.179-182
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• 2000

This study was performed to determine whether the $LH{\beta}$-subunit gene missense mutation is present in Korean infertile patients with 46,XX POF women. The variants of $LH{\beta}$ exon 2 (Trp 8Arg; TGG to CGG and Ile15Thr; ATC to ACC) were studied in forty-four 46,XX idiopathic POF and 54 nonpregnant women. The $LH{\beta}$ exon 2 variants were more frequent in POF patients (20.5%) than nonpregnant (16.7%) women (p>0.05). POF patients with the variant was slightly higher than nonpregnant women with the variant.

• Animal Bioscience
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• v.34 no.4
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• pp.489-498
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• 2021

Objective: Milk production is one of the most desirable traits in livestock. Recently, the toll-like receptor (TLR) has been identified as a candidate gene for milk traits in cows. So far, there is no information concerning the contribution of this gene in milk traits in sheep. This study was designed to investigate the TLR 4 gene polymorphisms in Barki ewes in Egypt and then correlate that with milk traits in order to identify potential single nucleotide polymorphisms (SNPs) for these traits in sheep. Methods: A part of the ovine TLR 4 gene was amplified in Barki ewes, to identify the SNPs. Consequently; Barki ewes were genotyped using polymerase chain reaction-single strand conformation polymorphism protocol. These genotypes were correlated with milk traits, which were the daily milk yield (DMY), protein percentage (PP), fat percentage (FP), lactose percentage, and total solid percentage (TSP). Results: Age and parity of the ewe had a significant effect (p<0.05 or p<0.01) on DMY, FP, and TSP. The direct sequencing identified a missense mutation located in the coding sequence of the gene (rs592076818; c.1710C>A) and was predicted to change the amino acid sequence of the resulted protein (p.Asn570Lys). The association analyses suggested a significant effect (p<0.05) of the TLR genotype on the FP and PP, while the DMY tended to be influenced as well (p = 0.07). Interestingly, the presence of the G allele tended to increase the DMY (+40.5 g/d) and significantly (p<0.05 or p<0.01) decreased the FP (-1.11%), PP (-1.21%), and TSP (-7.98%). Conclusion: The results of this study suggested the toll-like receptor 4 (TLR4) as a candidate gene to improve milk traits in sheep worldwide, which will enhance the ability to understand the genetic architecture of genes underlying SNPs that affect such traits.