Melis Kose1, Engin Kose2, Aycan Ünalp3, Ünsal Yılmaz3, Selvinaz Edizer3, Hande Gazeteci Tekin4, Pakize Karaoğlu3, Taha Reşid Özdemir5, Esra Er6, Hüseyin Onay7, Eser Sozmen Yildirim8. 1. Department of Pediatrics, Division of Metabolism and Nutrition, Izmir Katip Çelebi University Faculty of Medicine, Ismet Kaptan Street, 35100, Izmir, Turkey. drmelisdemir@gmail.com. 2. Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Ankara University Faculty of Medicine, Ankara, Turkey. 3. Pediatric Neurology Department, University of Health Sciences, Behçet Uz Children Training and Research Hospital, Izmir, Turkey. 4. Faculty of Medicine, Çiğli Research and Training Hospital, Department of Pediatrics, Division of Neurology, Bakırçay University, Izmir, Turkey. 5. Genetics Department, University of Health Sciences Tepecik Training & Research Hospital, Izmir, Turkey. 6. Department of Pediatrics, Division of Nutrition and Metabolism, Izmir Katip Çelebi University, Ataturk Training and Research Hospital, Izmir, Turkey. 7. Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey. 8. Clinical Chemistry Department, Ege University Faculty of Medicine, İzmir, Turkey.
Abstract
INTRODUCTION AND PURPOSE: Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL. MATERIAL AND METHOD: This is a descriptive cross-sectional study which was conducted in 14 patients from 10 unrelated families who were diagnosed with different types of NCL based on clinical presentation, neuroimaging, biochemical measurements, and molecular analyses, at the department of pediatric metabolism between June 2015 and June 2020. RESULTS: A total of 14 patients were diagnosed with different types of NCL. Of those, 4 patients were diagnosed with NCL7 (4/14; 30%), 3/14 (23%) with NCL1, 3/14 (23%) with NCL2, 2/14 (14.2%) with NCL13, and 1/14 (7.1%) with NCL10. Eleven pathogenic variants were detected, 5 of which are novel (c.721G>T [p.Gly241Ter] and c.301G>C [p.Ala146Pro] in MFDS8 gene; c.316C>T [p.Gln106Ter] in PPT1 gene; c.341C>T [p.Ala114Val] in TPP1 gene; c.686A>T [p.Glu229Val] in CTSD gene) CONCLUSION: This study is one of the pioneer comprehensive researches from Turkey that provides information about disease-causing variants and clinical presentation of different and rare types of NCLs. The identification of novel variants and phenotypic expansion is important for genetic counselling in Turkey and expected to improve understanding of NCLs.
INTRODUCTION AND PURPOSE:Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL. MATERIAL AND METHOD: This is a descriptive cross-sectional study which was conducted in 14 patients from 10 unrelated families who were diagnosed with different types of NCL based on clinical presentation, neuroimaging, biochemical measurements, and molecular analyses, at the department of pediatric metabolism between June 2015 and June 2020. RESULTS: A total of 14 patients were diagnosed with different types of NCL. Of those, 4 patients were diagnosed with NCL7 (4/14; 30%), 3/14 (23%) with NCL1, 3/14 (23%) with NCL2, 2/14 (14.2%) with NCL13, and 1/14 (7.1%) with NCL10. Eleven pathogenic variants were detected, 5 of which are novel (c.721G>T [p.Gly241Ter] and c.301G>C [p.Ala146Pro] in MFDS8 gene; c.316C>T [p.Gln106Ter] in PPT1 gene; c.341C>T [p.Ala114Val] in TPP1 gene; c.686A>T [p.Glu229Val] in CTSD gene) CONCLUSION: This study is one of the pioneer comprehensive researches from Turkey that provides information about disease-causing variants and clinical presentation of different and rare types of NCLs. The identification of novel variants and phenotypic expansion is important for genetic counselling in Turkey and expected to improve understanding of NCLs.
Authors: Angela Schulz; Temitayo Ajayi; Nicola Specchio; Emily de Los Reyes; Paul Gissen; Douglas Ballon; Jonathan P Dyke; Heather Cahan; Peter Slasor; David Jacoby; Alfried Kohlschütter Journal: N Engl J Med Date: 2018-04-24 Impact factor: 91.245
Authors: Martin L Katz; Luis Tecedor; Yonghong Chen; Baye G Williamson; Elena Lysenko; Fred A Wininger; Whitney M Young; Gayle C Johnson; Rebecca E H Whiting; Joan R Coates; Beverly L Davidson Journal: Sci Transl Med Date: 2015-11-11 Impact factor: 17.956
Authors: Charles Shyng; Hemanth R Nelvagal; Joshua T Dearborn; Jaana Tyynelä; Robert E Schmidt; Mark S Sands; Jonathan D Cooper Journal: Proc Natl Acad Sci U S A Date: 2017-07-03 Impact factor: 11.205
Authors: Magdalena Badura-Stronka; Anna Winczewska-Wiktor; Anna Pietrzak; Adam Sebastian Hirschfeld; Tomasz Zemojtel; Katarzyna Wołyńska; Katarzyna Bednarek-Rajewska; Monika Seget-Dubaniewicz; Agnieszka Matheisel; Anna Latos-Bielenska; Barbara Steinborn Journal: Genes (Basel) Date: 2021-06-23 Impact factor: 4.096