Journal of Interdisciplinary Genomics

유전의학융합회 (Interdisciplinary Society of Genetic & Genomic Medicine)
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FRMD7-associated Infantile Nystagmus Syndrome

  • Choi, Kwang-Dong (Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute) ;
  • Choi, Jae-Hwan (Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital)
  • 투고 : 2020.09.03
  • 심사 : 2020.09.22
  • 발행 : 2020.10.31
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초록

Infantile nystagmus syndrome (INS) is a genetically heterogeneous disorder. To date, more than 100 genes have been reported to cause INS and there is significant overlap in phenotypic characteristics. The most common form of X-linked INS is attributed to FRMD7 at Xq26. Recent advances in molecular genetics have facilitated the identification of pathogenic variants of FRMD7 and the investigation for underlying mechanisms of FRMD7-associated INS. This review summarizes genetic and clinical features of FRMD7-associated INS, and introduces updates on the pathogenesis of FRMD7 mutation.

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참고문헌

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