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A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease
J Genet Med 2018;15:28-33
Published online June 30, 2018;  https://doi.org/10.5734/JGM.2018.15.1.28
© 2018 Korean Society of Medical Genetics and Genomics.

Soonhak Kwon1, Jin-Sung Park2, Jae Hun Jung1, Su Kyeong Hwang1, Yeo Hyang Kim1, and Yun Jeong Lee1,*

1Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea
2Department of Neurology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea
Yun Jeong Lee, M.D. http://orcid.org/0000-0003-3472-5336
Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, 130 Dongdeok-ro, Jung-gu, Daegu 41944, Korea.
Tel: +82-53-200-5704, Fax: +82-53-425-6683, E-mail: oilily1103@hanmail.net
Received April 8, 2018; Revised May 15, 2018; Accepted May 16, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother’s side had similar pain and died of unknown causes. The plasma α-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.
Keywords : Fabry disease, Lysosomal storage diseases, α-Galactosidase.


June 2018, 15 (1)
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