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JYMS : Journal of Yeungnam Medical Science

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6 "Mutation"
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Case reports
Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report
Juhyung Kim, Soyoon Hwang, Narae Hwang, Yeonji Lee, Hee Jeong Cho, Joon Ho Moon, Sang Kyun Sohn, Dong Won Baek
J Yeungnam Med Sci. 2023;40(3):283-288.   Published online July 28, 2022
DOI: https://doi.org/10.12701/jyms.2022.00353
  • 2,636 View
  • 127 Download
AbstractAbstract PDFSupplementary Material
Severe chronic neutropenia is classified as severe congenital, cyclic, autoimmune, or idiopathic. However, there is a lot of uncertainty regarding the diagnosis of severe congenital neutropenia (SCN) and chronic idiopathic neutropenia, and this uncertainty affects further evaluations and treatments. A 20-year-old man presented with fever and knee abrasions after a bicycle accident. On admission, his initial absolute neutrophil count (ANC) was 30/µL. He had no medical history of persistent severe neutropenia with periodic oscillation of ANC. Although his fever resolved after appropriate antibiotic therapy, ANC remained at 80/µL. Bone marrow (BM) aspiration and biopsy were performed, and a BM smear showed myeloid maturation arrest. Moreover, genetic mutation test results showed a heterozygous missense variant in exon 4 of the neutrophil elastase ELANE: c597+1G>C (pV190-F199del). The patient was diagnosed with SCN. After discharge, we routinely checked his ANC level and monitored any signs of infection with minimum use of granulocyte colony-stimulating factor (G-CSF), considering its potential risk of leukemic transformation. Considering that SCN can be fatal, timely diagnosis and appropriate management with G-CSF are essential. We report the case of a patient with SCN caused by ELANE mutation who had atypical clinical manifestations. For a more accurate diagnosis and treatment of severe chronic neutropenia, further studies are needed to elucidate the various clinical features of ELANE.
A new type of oculocutaneous albinism with a novel OCA2 mutation
Sang Yoon Lee, Eun Joo Lee, Jun Chul Byun, Kyung Mi Jang, Sae Yoon Kim, Su-Kyeong Hwang
Yeungnam Univ J Med. 2021;38(2):160-164.   Published online August 3, 2020
DOI: https://doi.org/10.12701/yujm.2020.00339
  • 8,722 View
  • 213 Download
  • 2 Crossref
AbstractAbstract PDF
Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing skin cancer. Currently, there is no ophthalmologic procedure or drug that prevents the clinical features of OCA. Here, we report a new type of OCA in two, unrelated Korean families with the same OCA2 mutation. Affected individuals in this study are different from those of previous reports in two aspects: an inheritance pattern and clinical presentation. All reported patients with OCA have shown an autosomal recessive inheritance pattern, while our patients showed an autosomal dominant inheritance pattern. Small amounts of pigment can be acquired with age in OCA, but there is no substantial variation from adolescence to adulthood in this regard. A case where the patient attained normal pigmentation levels has never been reported. However, our patients displayed completely normal pigmentation in their late twenties. Whole exome sequencing and in-silico analysis revealed a novel mutation, OCA2 c.2338G>A p.(G780S) (NM_000275) with a high likelihood of pathogenicity. Sanger sequencing of p.G780S identified the same mutation in the affected individuals, which was not found in the family members with normal phenotype. We hypothesize that OCA2 G780S not only acts as a pathogenic variant of OCA but also induces pigmentation by enhancing the melanogenesis gene expression of other modifier genes, such as SLC45A2 and TPC2. These findings may provide further understanding of melanin biosynthesis and new treatment methods for OCA.

Citations

Citations to this article as recorded by  
  • Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism
    Beilei Jiang, Hua Zhang, Yuling Kan, Xueping Gao, Zhaoli Du, Quan Liu
    Molecular Genetics & Genomic Medicine.2024;[Epub]     CrossRef
  • Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
    Muhammad Ikram Ullah
    Genes.2022; 13(6): 1072.     CrossRef
Case Reports
Ocular manifestations in a patient with de novo Fabry disease
You Hyun Lee, Kyu Young Shim, Sung Bae Park, Yu Cheol Kim
Yeungnam Univ J Med. 2018;35(2):232-235.   Published online December 31, 2018
DOI: https://doi.org/10.12701/yujm.2018.35.2.232
  • 5,169 View
  • 85 Download
  • 1 Crossref
AbstractAbstract PDF
Fabry disease (FD) is an X-linked, recessively inherited, rare, progressive, disorder of glycosphingolipid metabolism affecting multiple organs resulting in organ dysfunction. It is rare to find only one FD affected subject with a de novo mutation. Here we report a case of a 41-year-old Asian male diagnosed with de novo FD. Comprehensive ophthalmological evaluation was performed using slit lamp, color fundus photography, optical coherence tomography, fluorescein angiography, and indocyanine green angiography. On slit lamp examination, cornea verticillata and slightly tortuous, and aneurysmal dilatation of inferior bulbar conjunctival vessels were observed. Other imaging modalities showed unremarkable findings. Cornea verticillata and inferior bulbar conjunctival vascular abnormalities may be detected earlier than other ocular abnormalities in de novo FDs like hereditary FDs.

Citations

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  • Implications of Corneal Refractive Surgery in Patients with Fabry Disease
    Majid Moshirfar, Nour Bundogji, Alyson N. Tukan, Yasmyne C. Ronquillo
    Ophthalmology and Therapy.2022; 11(3): 925.     CrossRef
Double primary lung adenocarcinoma diagnosed by epidermal growth factor receptor mutation status
Oh Jung Kwon, Min Hyeok Lee, Sung Ju Kang, Seul Gi Kim, In Beom Jeong, Ji Yun Jeong, Eun Jung Cha, Do Yeun Cho, Young Jin Kim, Ji Woong Son
Yeungnam Univ J Med. 2017;34(2):270-274.   Published online December 31, 2017
DOI: https://doi.org/10.12701/yujm.2017.34.2.270
  • 2,142 View
  • 11 Download
AbstractAbstract PDF
A nodular density was detected on a chest radiograph taken from a 57-year-old Korean woman who was visiting a hospital for a routine check. Chest computed tomography revealed a 4.8 cm lobulated mass in the right lung and another focal nodular lesion in the left lung; biopsies of both lungs revealed adenocarcinoma. We conducted DNA sequencing and peptide nucleic acid clamping to investigate the potential double primary lung cancer. The results verified that the mass in the right lung had a mutation in the epidermal growth factor receptor, whereas the nodule in the left lung had a wild-type sequence, showing that these two were genetically different cancers from one another. Thus, we demonstrate that genetic testing is useful in determining double primary lung cancer, and we herein report on this case.
A Case of Molecular Diagnosis of Ornithine Transcarbamylase Deficiency.
Eun Sil Lee
Yeungnam Univ J Med. 2007;24(2):322-328.   Published online December 31, 2007
DOI: https://doi.org/10.12701/yujm.2007.24.2.322
  • 1,669 View
  • 0 Download
  • 1 Crossref
AbstractAbstract PDF
Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea cycle, the conversion of ornithine and carbamyl phosphate to citrulline. Deficiency of OTC leads to the accumulation of ammonia, causing neurological deficits. In most affected hemizygote males, OTC deficiency manifests as hyperammonemic coma that often leads to death in the newborn period, and those who recover from the coma may be neurologically impaired due to the sequelae of the hyperammonemic encephalopathy. In some, late-onset manifestations develop. We report a male neonate with early onset OT deficiency that had apnea and was comatous. On mutation analysis using DNA sequencing after polymerase chain reaction (PCR) amplification of the 10 exons, deletions of 10 bases in codon 285, causing a frame shift was detected in exon 8. The mother and a sister were diagnosed as female carriers. Therefore, genetic counseling and the risk assessment could be provided to the family.

Citations

Citations to this article as recorded by  
  • The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea
    In Ok Hwang, Eun Sil Lee
    Journal of the Korean Society of Neonatology.2011; 18(1): 143.     CrossRef
A Case of Gefitinib (Iressa(R))-associated Tumor Lysis Syndrome in Adenocarcinoma of the Lung.
Kyu Jin Kim, Won Jong Park, Sung Ken Yu, Kyeong Cheol Shin, Jin Hong Chung, Myung Soo Hyun, Kwan Ho Lee
Yeungnam Univ J Med. 2006;23(2):221-226.   Published online December 31, 2006
DOI: https://doi.org/10.12701/yujm.2006.23.2.221
  • 1,507 View
  • 3 Download
AbstractAbstract PDF
The tumor lysis syndrome has been described as biochemical disturbances associated with rapid destruction of tumor cells and subsequent synchronized massive release of cellular breakdown products sufficient to overwhelm excretory mechanisms and the body's normal reutilization capacity. The cardinal signs of the tumor lysis syndrome are hyperkalemia, hyperphosphatemia, hypocalcemia and hyperuricemia. Gefitinib (Iressa) is an oral, selective epidermal growth factor receptor (EGFR) inhibitor that has activity in female, non-smoker and non-small cell lung cancer with an EGFR mutation. Gefitinib is a well tolerated drug with few side effects. It has been associated with skin rash, diarrhea, nausea, a decrease in liver function and interstitial lung disease. However, there is no prior report of the tumor lysis syndrome associated with gefitinib. We report a case of a 54 year-old woman who developed tumor lysis syndrome that might have been induced by gefitinib after the treatment of adenocarcinoma of lung with an EGFR mutation.

JYMS : Journal of Yeungnam Medical Science