Utility of Optical Genome Mapping in Repeat Disorders
Küçük Resim Yok
Tarih
2024
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Wiley
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Genomic repeat sequences are patterns of nucleic acids that exist in multiple copies throughout the genome. More than 60 Mendelian disorders are caused by the expansion or contraction of these repeats. Various specific methods for determining tandem repeat variations have been developed. However, these methods are highly specific to the genomic region being studied and sometimes require specialized tools. In this study, we have investigated the use of Optical Genome Mapping (OGM) as a diagnostic tool for detecting repeat disorders. We evaluated 19 patients with a prediagnosis of repeat disorders and explained the molecular etiology of 9 of them with OGM (5 patients with Facioscapulohumeral Muscular Dystrophy (FSHD), 2 patients with Friedreich's Ataxia (FA), 1 patient with Fragile X Syndrome (FXS), and 1 patient with Progressive Myoclonic Epilepsy 1A (EPM1A)). We confirmed OGM results with more widely used fragment analysis techniques. This study highlights the utility of OGM as a diagnostic tool for repeat expansion and contraction diseases such as FA, FXS, EPM1A, and FSHD.
Açıklama
Anahtar Kelimeler
Bionano, Facioscapulohumeral Muscular Dystrophy, Fragile X Syndrome, Friedreich's Ataxia, FSHD, Optical Genome Mapping, Progressive Myoclonic Epilepsy 1A
Kaynak
Clinical Genetics
WoS Q Değeri
Q2
Scopus Q Değeri
Q2
Cilt
107
Sayı
2
Künye
Mutlu, M. B., Karakaya, T., Çelebi, H. B. G., Duymuş, F., Seyhan, S., Yılmaz, S., Yiş, U., Atik, T., Yetkin, M. F., & Gümüş, H. (2025). Utility of optical genome mapping in repeat disorders. Clinical Genetics, 107(2), 188-195.
