Restrictive dermopathy caused by a mutation in ZMPSTE24 gene: a case report and genotype-phenotype correlation analysis

doi:10.3969/j.issn.1673-5501.2019.04.012

Chinese Journal of Evidence-Based Pediatrics ›› 2019, Vol. 14 ›› Issue (4): 303-307.DOI: 10.3969/j.issn.1673-5501.2019.04.012

• Original Papers • Previous Articles Next Articles

Restrictive dermopathy caused by a mutation in ZMPSTE24 gene: a case report and genotype-phenotype correlation analysis

ZHAO De-xiong^1,3, WANG Qing^2,3, PENG Xiao-min², HAI Yu-ting¹, MA Li-gang¹,WANG Yue², WANG Sheng-lan¹, WANG Hui-jun², WU Bing-bing²

1 Department of Obstetrics,Qinghai Red Cross Hospital,Xining 810000,China;
2 Children's Hospital of Fudan University, Shanghai Key Laboratory of Birth Defects, Shanghai 201102, China;
3 Co-first author

Received:2019-08-01 Revised:2019-08-23 Online:2019-08-25 Published:2019-08-25
Contact: WANG Hui-jun, E-mail: huijunwang@fudan.edu.cn; WU Bing-bing, E-mail: bingbingwu2010@163.com

Abstract

Abstract: Objective To summarize the clinical features and the characteristics of a mutation in ZMPSTE24 gene in a stillborn fetus with restrictive dermopathy (RD), and to provide evidence for prenatal counseling.Methods We analyzed the clinical and genetic data of the stillborn fetus with RD. According to HGMD and PubMed,literature on clinical symptoms of the diseases caused by ZMPSTE24 mutation was reviewed.Results The neonate panel sequencing combined Sanger sequencing in proband and parents confirmed a homozygous frameshift mutation in ZMPSTE24 gene (c.1085dupT,p.Leu362PhefsTer19), which has been reported as a disease-causing mutation of RD and the hotspot mutation with high frequency up to 57.14%. Searching from HGMD and PubMed with "ZMPSTE24", and 32 disease-causing mutations were found to be related to 4 types of diseases. Up to July 2019, a total of 63 cases that caused by ZMPSTE24 mutations were retrieved in PubMed while there is no domestic report in Wanfang and CNKI database. The 49 cases of RD were summarized in this article. The severity of diseases caused by the mutation in ZMPSTE24 gene has a high correlation with the activity of zinc metalloprotease and the accumulation of prelamin A.Conclusion Leu362PhefsTer19 detected in this stillborn neonate is a hotspot mutation in ZMPSTE24 gene. The genotype of ZMPSTE24 gene is closely related to the phenotype. This article suggests that abnormal fetal development may consider the possibility of RD. The genetic test provides the basis not only for accurate diagnosis of RD but also for the appropriate intervention and family genetic counseling.

Key words: ZMPSTE24 gene, Restrictive dermopathy, Enzymatic activity, Genotype, Phenotype

ZHAO De-xiong, WANG Qing, PENG Xiao-min, HAI Yu-ting, MA Li-gang, WANG Yue, WANG Sheng-lan, WANG Hui-jun, WU Bing-bing. Restrictive dermopathy caused by a mutation in ZMPSTE24 gene: a case report and genotype-phenotype correlation analysis[J]. Chinese Journal of Evidence-Based Pediatrics, 2019, 14(4): 303-307.

References

[1]Kim JY, Kim SH, Ji HY, et al. A case of restrictive dermopathy with novel ZMPSTE24 gene mutation. Pediatr Dev Pathol, 2012, 15(5): 393-396
[2]Jagadeesh S, Bhat L, Suresh I, et al. Prenatal diagnosis of restrictive dermopathy. Indian Pediatr, 2009, 46(4): 349-351
[3]Saxena R, Kohli S, Verma IC. Novel human pathological mutations. Gene symbol: Zmpste24. Disease: Restrictive dermopathy. Hum Genet, 2010, 127(4): 480
[4]Chen M, Kuo HH, Huang YC, et al. A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene. Am J Med Genet A, 2009, 149A(7): 1550-1554
[5]Navarro CL, Esteves-Vieira V, Courrier S, et al. New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update. Eur J Hum Genet, 2014, 22(8): 1002-1011
[6]Ahmad Z, Phadke SR, Arch E, et al. Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity. Clin Genet, 2012, 81(2): 158-164
[7]Navarro CL, Cadinanos J, De Sandre-Giovannoli A, et al. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet, 2005, 14(11): 1503-1513
[8]Sander CS, Salman N, van Geel M, et al. A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East. Br J Dermatol, 2008, 159(4): 961-967
[9]Smigiel R, Jakubiak A, Esteves-Vieira V, et al. Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. Am J Med Genet A, 2010, 152A(2): 447-452
[10]Moulson CL, Go G, Gardner JM, et al. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol, 2005, 125(5): 913-919
[11]Kariminejad A, Goodarzi P, Thanh Huong le T, et al. Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family. Saudi Med J, 2009, 30(1): 150-153
[12]Morais P, Magina S, Ribeiro MC, et al. Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature. Eur J Pediatr, 2009, 168(8): 1007-1012

[13]Li C. Homozygosity for the common mutation c. 1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption. Am J Med Genet A, 2010, 152A(1): 262-263
[14]Yesil G, Hatipoglu L, Esteves-Vieira V, et al. Restrictive dermopathy in a Turkish newborn. Pediatr Dermatol, 2011, 28(4): 408-411
[15]Dutta AK, Danda S. Restrictive Dermopathy. Pediatr Neonatol, 2016, 57(3): 259
[16]Diociaiuti A, D'amico P, Pisaneschi E, et al. Teledermatology diagnosis of the first Italian patient affected with restrictive dermopathy due to ZMPSTE24 homozygous mutation. J Eur Acad Dermatol Venereol, 2019, 33(3): e139-e140
[17]Lu CS, Wu SC, Hou JW, et al. Restrictive dermopathy: report of two siblings. Pediatr Neonatol, 2013, 54(3): 198-201
[18]Matuleviciene A, Meskiene R, Morkuniene A, et al. Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy. Clin Dysmorphol, 2016, 25(1): 7-11
[19]Thill M, Nguyen TD, Wehnert M, et al. Restrictive dermopathy: a rare laminopathy. Arch Gynecol Obstet, 2008, 278(3): 201-208
[20]Miyoshi Y, Akagi M, Agarwal AK, et al. Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. Clin Genet, 2008, 73(6): 535-544
[21]Ahmad Z, Zackai E, Medne L, et al. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am J Med Genet A, 2010, 152A(11): 2703-2710
[22]Cunningham VJ, D'apice MR, Licata N, et al. Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. Bone, 2010, 47(3): 591-597
[23]Ben YR, Navarro C, Quijano-Roy S, et al. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J Hum Genet, 2011, 19(6): 647-654
[24]Agarwal AK, Zhou XJ, Hall RK, et al. Focal segmentalglomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. J Investig Med, 2006, 54(4): 208-213
[25]Kwan JM. Mandibuloacral dysplasia type B in an infant: a rare progeroid genodermatosis. JAMA Dermatol, 2015, 151(5): 561-562
[26]Agarwal AK, Fryns JP, Auchus RJ, et al. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet, 2003, 12(16): 1995-2001
[27]Haye D, Dridi H, Levy J, et al. Failure of ossification of theoccipital bone in mandibuloacral dysplasia type B. Am J Med Genet A, 2016, 170(10): 2750-2755
[28]Harhouri K, Navarro C, Baquerre C, et al. Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells. Cells, 2016, 5(3), pii: E31
[29]Denecke J, Brune T, Feldhaus T, et al. A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. Hum Mutat, 2006, 27(6): 524-531
[30]Shackleton S, Smallwood DT, Clayton P, et al. Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype. J Med Genet, 2005, 42(6): e36
[31]Galant D, Gaborit B, Desgrouas C, et al. A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy. Cells, 2016, 5(2), pii: E21
[32]Navarro CL, De Sandre-Giovannoli A, Bernard R, 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(20): 2493-2503
[33]Quigley A, Dong YY, Pike AC, et al. The structural basis of ZMPSTE24-dependent laminopathies. Science, 2013, 339(6127): 1604-1607
[34]Barrowman J, Wiley PA, Hudon-Miller SE, et al. Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity. Hum Mol Genet, 2012, 21(18): 4084-4093
[35]Spear ED, Hsu ET, Nie L, et al. ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability. Dis Model Mech, 2018, 11(7), pii: dmm033670
[36]Witt DR, Hayden MR, Holbrook KA, et al. Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia. Am J Med Genet, 1986, 24(4): 631-648

Restrictive dermopathy caused by a mutation in ZMPSTE24 gene: a case report and genotype-phenotype correlation analysis

PDF

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Recommended Articles

Metrics

Comments

[1]	WANG Qing, XU Qiong, XIAO Feifan, QIAN Yanyan, LIU Renchao, LI Gang, ZHOU Wenhao, WU Bingbing, XU Xiu, WANG Huijun. 13 children with SATB2associated syndrome： A case series report [J]. Chinese Journal of Evidence -Based Pediatric, 2020, 15(6): 455-458.
[2]	ZHANG Ping, LIU Ren-chao, LU Wei, WU Bing-bing, WANG Hui-jun, ZHOU Wen-hao. Clinical analysis of 19 children with Russel Silver syndrome [J]. Chinese Journal of Evidence -Based Pediatric, 2019, 14(4): 282-286.
[3]	YANG Lin, DONG Xin-ran, PENG Xiao-min, CHEN Xiang, WU Bing-bing, WANG Hui-jun, LU Yu-lan, ZHOU Wen-hao. Evaluation of turn around time and diagnostic accuracy of the next generation sequencing data analysis pipeline version 2 of Children's Hospital of Fudan University [J]. Chinese Journal of Evidence -Based Pediatric, 2018, 13(2): 118-123.
[4]	LU Li-juan, ZHONG Hua-qing, XU Meng-hua, SU Li-yun, CAO Ling-feng, DONG Niu-niu, DONG Zuo-quan, XU Jin. Singlecentre epidemiology and genotyping of human adenovirus in outpatient children with sporadic diarrhea in Shanghai [J]. Chinese Journal of Evidence -Based Pediatric, 2017, 12(5): 352-356.
[5]	LI Wen-ting, GENG Wen-jing, YAO Kai-hu, SHI Wei, QI Yu-jie, SHEN Xu-zhuang. Nasal carriage and molecular characteristics of Staphylococcus aureus isolates from neonates in neonatal intensive care unit [J]. Chinese Journal of Evidence -Based Pediatric, 2016, 11(5): 365-368.
[6]	TANG Xiang,CHEN Ru-juan, LAI Fang-fang, XU Hong-mei, HUANG Ai-long. The genotype and recombination of norovirus in children with diarrhea caused by viral infection in Chongqing, 2012 [J]. Chinese Journal of Evidence -Based Pediatric, 2014, 9(3): 167-171.
[7]	MEI Mei, YANG Lin, FAN Zi-chuan, CHENG Guo-qiang, WANG Lai-shuan, CAO Yun, LU Wei, ZHOU Wen-hao. The genotype-phenotype analysis in 13 neonates with Prader-Willi syndrome caused by type Ⅰ or type Ⅱ deletion [J]. Chinese Journal of Evidence -Based Pediatric, 2013, 8(4): 286-289.
[8]	LV Jun-lan, LIU Jing,ZHANG Li-ping,LI Jiu-wei,SUN Xin,LANG Zhi-qi,DING Chang-hong,CHEN Chun-hong. Analysis of mitofusin 2 genotype and phenotype in 21 children with charact-marry-tooth type Ⅱ [J]. Chinese Journal of Evidence -Based Pediatric, 2013, 8(2): 131-135.
[9]	LU Li-juan, ZHONG Hua-qing, SU Li-yun, CAO Ling-feng, XU Meng-hua, XU Jin. Epidemical characteries of group A Rotavirus genotypes in children hospitalized with diarrhea in Shanghai, during 2008-2011 [J]. Chinese Journal of Evidence -Based Pediatric, 2013, 8(2): 98-104.
[10]	LEI Xiao-yan,WANG San-ping，SUN Yong-hong ,YUAN Hong. Study on chronic hepatitis B related markers and liver tissue pathology in children [J]. Chinese Journal of Evidence -Based Pediatric, 2012, 7(5): 384-388.
[11]	YANG Lin, CHEN Long-xia, ZHAN Guo-dong,WANG Lai-shuan, CHENG Guo-qiang, MA Duan, HUANG Guo-ying, ZHOU Wen-hao. Genotype and phenotype correlations for the deletion of 11q24.2-q25: 2 cases report and literature review [J]. Chinese Journal of Evidence -Based Pediatric, 2012, 7(4): 278-284.
[12]	ZHAN Shi-na, HE Xi-yu, WANG Chun-zhi, YANG Yao, WANG Yan, WU Hong-lin, LI Hao. Clinical phenotype study of Prader-Willi syndrome in 13 neonates [J]. Chinese Journal of Evidence -Based Pediatric, 2012, 7(3): 200-204.
[13]	. Characterization and correlation of genotype with phenotype of 40 cases of X-linked agammaglobulinemia in China [J]. Chinese Journal of Evidence -Based Pediatric, 2012, 7(1): 4-10.
[14]	YANG Lin,NI Jing-wen,ZHAN Guo-dong,WANG Hui-jun,CHEN Chao,HUANG Guo-ying,ZHOU Wen-hao. Genomic copy number variations in three independent neonates with 5p partial monosomy [J]. Chinese Journal of Evidence -Based Pediatric, 2011, 6(2): 86-92.
[15]	XIAO Jing, GU Yi, SUN Lin, MIAO Qing, JIAO Wei-wei, FENG Wei-xing, WU Xi-rong, GUO Ya-jie, SHEN A-dong. Distribution of single nucleotide polymorphisms of cytochrome P450 genes and mtabolic phenotypes in Han children [J]. Chinese Journal of Evidence -Based Pediatric, 2010, 5(3): 194-200.