Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.

Ehlers-Danlos syndrome (EDS) is a hereditary disorder of the connective tissue. EDS type IV (EDS IV), the vascular type of the disease, is characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations in the gene for type III procollagen (COL3A1).

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

We have identified missense mutations at conserved amino acids in the PRPS1 gene on Xq22.3 in two families with a syndromic form of inherited peripheral neuropathy, one of Asian and one of European descent. The disease is inherited in an X-linked recessive manner, and the affected male patients invariably develop sensorineural hearing loss of prelingual type followed by gating disturbance and visual loss.

Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.

Currarino syndrome (CS) is a rare autosomal dominant disease that has been described as a triad of partial sacral agenesis, anorectal anomalies, and a presacral mass. Mutations in the HLXB9 gene have been suggested to be the genetic background of CS. In this study, sequence analysis of the HLXB9 gene was performed in two familial and two sporadic Korean patients showing the clinical features of CS, and two mutations in the HLXB9 gene were identified only in the two familial cases.

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.

Isovaleric acidemia (IVA) is an autosomal recessive inborn error of the leucine metabolism that is caused by a deficiency of isovaleryl-CoA dehydrogenase (IVD). Recent application of tandem mass spectrometry to newborn screening has allowed a significant expansion of the recognition of individuals with IVD deficiency. Although many patients have been reported worldwide, there are no genetically confirmed patients in Korea.

The effect of residual silk sericin on the structure and mechanical property of regenerated silk filament.

In this study, we elucidated the effect of residual silk sericin (SS) on structure and mechanical properties of regenerated silk filament as well as on fiber formation. The dope viscosity markedly increased with increasing residual SS content in dope solution which was prepared by dissolving the silk protein in formic acid. As a result of FTIR, (13)C NMR, and XRD, a small amount of SS (9.

A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease.

Rippling muscle disease (RMD) is a rare form of myopathy that is characterized by percussion-induced rapid muscle contractions, muscle mounding, and rippling. Recently a caveolin-3 gene (CAV3) mutation was identified in patients suffering from autosomal dominant RMD. We encountered a Korean male patient with RMD who had suffered from muscle stiffness for 3 years.

Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.

Mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been identified in families with distal hereditary motor neuropathy (dHMN) and in families with SPG17-linked Silver syndrome. We studied the first Korean families with clinical features resembling classic Silver syndrome and dHMN type V. Direct sequencing analysis of the BSCL2 gene revealed a Ser90Leu mutation in the proband, a younger sister, and one of two sons of the proband.

Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family.

Familial ALS (FALS) is mostly inherited as an age-dependent autosomal dominant trait. Since the discovery of mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1), testing for SOD1 gene mutations has become a routine part of the investigation into ALS patients with a family history. This study reports the results of mutation evaluation and clinical features examination in a Korean family with ALS.

Fibrillin-1 gene analysis of Korean patients with spontaneous CSF hypovolemia.

Background: Mutations in different domains of the Fibrillin-1 (FBN1) gene may be responsible for the variable phenotypic expression of Marfan's syndrome that may present with CSF hypovolemia.

Objectives: To evaluate the association between mutations in the Fibrillin-1 (FBN1) gene and spontaneous CSF hypovolemia (SCH) in a Korean population.

Methods: We studied 10 consecutive patients with SCH without clinical characteristics of Marfan's syndrome.

Impact of epidermal growth factor receptor (EGFR) kinase mutations, EGFR gene amplifications, and KRAS mutations on survival of pancreatic adenocarcinoma.

Background: Erlotinib, in combination with gemcitabine, has shown clinical benefits in pancreatic adenocarcinoma patients. The presence of EGFR mutations and increased EGFR copy numbers in pancreatic adenocarcinoma was explored.

Methods: Sixty-six pancreatic cancer patients were included in the analysis.

Preparation and characterization of wet spun silk fibroin/poly(vinyl alcohol) blend filaments.

Silk fibroin (SF)/poly(vinyl alcohol) (PVA) blend filaments were prepared by a wet spinning process. Regenerated SF and PVA were dissolved in formic acid and the dope solution exhibited good fiber formation in a methanol coagulation bath. Due to the miscibility of SF/PVA in formic acid, the filament had a smooth surface and dense structure with a circular cross-section.

Ischemia-modified albumin is a highly sensitive serum marker of transient myocardial ischemia induced by coronary vasospasm.

Background: Ischemia-modified albumin, a new marker of myocardial ischemia, is known to elevate during ischemia induced by percutaneous coronary intervention. It is, however, not known whether ischemia-modified albumin also elevates during transient coronary vasospasm.

Methods: We evaluated ischemia-modified albumin in patients undergoing intracoronary ergonovine spasm provocation test (n=26).

Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy.

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disorder characterized by progressive dysphagia and bilateral ptosis. Mutations in the polyadenylate binding protein nuclear 1 (PABPN1) gene have been found to cause OPMD. The typical mutation is a stable trinucleotide repeat expansion in the first exon of the PABPN1 gene, in which (GCG)(6) is the normal repeat length.

Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family.

Episodic ataxia type 2 (EA-2) is an inherited disorder that is characterized by intermittent vertigo, ataxia, and interictal gaze-evoked nystagmus. Although abnormalities associated with this disorder have been found in the CACNA1A gene encoding the alpha1A (Cav2.1) subunit of the P/Q-type calcium channel, there are few reports of genetically confirmed EA-2 in Korea.

Diversity of ampicillin resistance genes and antimicrobial susceptibility patterns in Haemophilus influenzae strains isolated in Korea.

By Etest determination of the susceptibilities of 229 Haemophilus influenzae strains isolated in Korea to 10 antibiotics, the isolates were found to be antibiotic nonsusceptible in the following order: ampicillin (58.1%), trimethoprim-sulfamethoxazole (52%), cefaclor (41.1%), clarithromycin (25.

Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family.

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder that is characterized by branchial cysts or fistulae, external ear malformations and/or preauricular pits, hearing loss and renal anomalies. Recent advances in molecular genetics have shown a human homologue of the Drosophila 'eyes absent' gene (EYA1) on chromosome band 8q13.3 to be the most common cause of BOR syndrome.

A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.

Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first decade.

X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.

X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations in the MID1 gene which encodes a microtubule-associated RING-Bbox-Coiled-coil (RBCC) protein. We recently found a four-year Korean male patient who was suspected of having XLOS.

Polymorphisms of interferon-gamma and interferon-gamma receptor 1 genes and non-tuberculous mycobacterial lung diseases.

Interferon-gamma (IFN-gamma) is crucial for host defense against mycobacterial infections. Recent studies have indicated that IFN-gamma and IFN-gamma receptor 1 (IFN-gammaR1) gene polymorphisms are associated with susceptibility to pulmonary tuberculosis. The aim of this study was to test the hypothesis that IFN-gamma and IFN-gammaR1 gene polymorphisms influence susceptibility to lung disease caused by non-tuberculous mycobacteria (NTM).

Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.

Hereditary sensory and autonomic neuropathies (HSAN) are a group of clinically and genetically heterogeneous disorders that are associated with sensory dysfunction. Among these, HSAN type 2 (HSAN2; MIM 201300) is a rare recessive disease that is characterized by an early age of onset with distal and proximal sensory loss, dysfunction of the autonomic nervous system, loss of the tendon reflex, the presence of various mutilations, and the slow progression of the disease over time. The authors report a Korean patient with the clinical features of HSAN2, who was compound heterozygous for two loss-of-function mutations in the HSN2 gene: c.

Erratum to: Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

In this article, one of the novel mutations, A591T, was incorrectly given as A591P. In all occurrences throughout the article, the correct nomenclature of the novel mutation should be A591T.

Clinical features and gene analysis in Korean patients with early-onset Parkinson disease.

Background: Systematic analysis of clinical features and gene mutations has not been performed in Korean patients with early-onset Parkinson disease (PD).

Objective: To investigate the clinical characteristics and genetic background of Korean patients with early-onset PD.

Design: Clinical and genetic study.

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically confirmed case of MM in Korea. Recently, we encountered three unrelated Korean patients with MM and two of them have previously been considered as having a type of inflammatory myopathy.

Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.

A 16-month old boy was referred to our hospital for evaluation of recurrent generalized tonic clonic seizures. Metabolic evaluation revealed significant hyperammonemia (1,112 microg/dl). Amino acid/acylcarnitine screening using tandem mass spectrometry showed markedly increased plasma levels of citrulline (1,350 microM/l) with undetectable levels of arginine and arginosuccinic acid.