Novel compound heterozygous indel ZMPSTE24 mutations in a Taiwanese male infant with restrictive dermopathy
Tzu-Chien Hsu
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorPei-Hsiu Yu
Department of Obstetrics and Gynecology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan, Taiwan
Search for more papers by this authorYi-Han Chang
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorBryan Edgar K. Guevara
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines
Search for more papers by this authorMeng-Che Tsai
Department of Pediatrics, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorMei-Hui Yang
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorPei-Yin Tsai
Department of Obstetrics and Gynecology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorJulia Yu-Yun Lee
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorSheau-Chiou Chao
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorCorresponding Author
Chao-Kai Hsu
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan
College of Medicine, Institute of Clinical Medicine, National Cheng Kung University, Tainan, Taiwan
Correspondence
Chao-Kai Hsu, Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, 138 Sheng-Li Road, North District, Tainan City 704, Taiwan.
Email: [email protected]
Search for more papers by this authorTzu-Chien Hsu
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorPei-Hsiu Yu
Department of Obstetrics and Gynecology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan, Taiwan
Search for more papers by this authorYi-Han Chang
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorBryan Edgar K. Guevara
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines
Search for more papers by this authorMeng-Che Tsai
Department of Pediatrics, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorMei-Hui Yang
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorPei-Yin Tsai
Department of Obstetrics and Gynecology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorJulia Yu-Yun Lee
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorSheau-Chiou Chao
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
Search for more papers by this authorCorresponding Author
Chao-Kai Hsu
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan
International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan
College of Medicine, Institute of Clinical Medicine, National Cheng Kung University, Tainan, Taiwan
Correspondence
Chao-Kai Hsu, Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, 138 Sheng-Li Road, North District, Tainan City 704, Taiwan.
Email: [email protected]
Search for more papers by this authorHsu and Yu are co-first authors
REFERENCES
- 1Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, et al. Lamin a and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet. 2004; 13: 2493–503.
- 2Cassini TA, Robertson AK, Bican AG, Cogan JD, Hannig VL, Newman JH, et al. Phenotypic heterogeneity of ZMPSTE24 deficiency. Am J Med Genet A. 2018; 176: 1175–9.
- 3Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S. Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity. Hum Mol Genet. 2012; 21: 4084–93.
- 4Hou JW. A shared founder mutation underlies lethal restrictive dermopathy in the Austronesian aboriginal Atayal tribe of Taiwan. J Formos Med Assoc. 2015; 114: 1017–9.
- 5Liao NFC, Chee SY, Wang CH, Lin TY, Hsu CJ. Restrictive dermopathy in a Taiwanese newborn. Dermatol Sin. 2016; 34: 112–3.
