Hyperpigmentation in a Chinese family with autosomal dominant Cole disease

被引:3
作者
Li, Zhongtao [1 ,2 ]
Wang, Lin [1 ,2 ]
Wang, Sheng [1 ,2 ]
机构
[1] Sichuan Univ, West China Hosp, Dept Dermatol, Chengdu 610041, Peoples R China
[2] Sichuan Univ, West China Hosp, Lab Dermatol, Clin Inst Inflammat & Immunol CIII,Frontiers Sci, Chengdu, Peoples R China
基金
中国博士后科学基金;
关键词
autosomal dominant inheritance; Chinese; Cole disease; ENPP1; hyperpigmentation; EPIDERMOLYSIS-BULLOSA SIMPLEX; HYPOPIGMENTATION; ASSOCIATION; MUTATIONS;
D O I
10.1111/exd.14434
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Cole disease (OMIM 615522), caused by mutations in ENPP1, is a rare autosomal dominant or recessive genodermatosis characterized by guttate hypopigmentation and punctate palmoplantar keratoderma. To date, a few cases with autosomal recessive inheritance had been reported with hyperpigmentation. The aim of this case report was to investigate the molecular basis of individuals with hyperpigmentation, hypopigmentation and punctate keratoderma in a Chinese family. A Chinese pedigree of suspected Cole disease with hyperpigmentation was subjected to mutation detection in the ENPP1 gene. All exons of the ENPP1 gene and adjacent exon-intron border sequences were amplified using polymerase chain reaction and directly sequenced. Three-dimensional (3D) models of the wild-type and mutated ENPP1 proteins were predicted by PyMOL viewer. Both of the proband and his affected father carried a heterozygous missense mutation p.C176R in ENPP1. In silico modelling of the ENPP1 wild-type and ENPP1 with the p.C176R mutation showed the residue Arg-176 disturbed the fold of the loop conformation. Based on clinical and genetic findings, a diagnosis of Cole disease was made. We identified a heterozygous mutation, p.C176R, in the ENPP1 gene in a Chinese family with Cole disease. This study clearly showed that hyperpigmentation could also occur in Cole disease in cases with autosomal dominant inheritance. Our data expand the phenotypic spectrum of ENPP1 mutations underlying Cole disease.
引用
收藏
页码:248 / 254
页数:7
相关论文
共 20 条
[1]  
Alshaikh H, 2017, DERMAT RES PRACT, V2017, DOI 10.1155/2017/3518568
[2]  
Bergant Suhodolcan Aleksandra, 2014, Acta Dermatovenerol Alp Pannonica Adriat, V23, P33
[3]   Melanosome transfer to and translocation in the keratinocyte [J].
Boissy, RE .
EXPERIMENTAL DERMATOLOGY, 2003, 12 :5-12
[4]   ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis [J].
Chourabi, Marwa ;
Liew, Mei Shan ;
Lim, Shawn ;
Brahim, Dorra H'mida-Ben ;
Boussofara, Lobna ;
Dai, Liang ;
Wong, Pui Mun ;
Foo, Jia Nee ;
Sriha, Badreddine ;
Robinson, Kim Samirah ;
Denil, Simon ;
Common, John E. A. ;
Mamai, Ons ;
Ben Khalifa, Youcef ;
Bollen, Mathieu ;
Liu, Jianjun ;
Denguezli, Mohamed ;
Bonnard, Carine ;
Saad, Ali ;
Reversade, Bruno .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2018, 138 (02) :291-300
[5]   HYPOPIGMENTATION WITH PUNCTATE KERATOSIS OF PALMS AND SOLES [J].
COLE, LA .
ARCHIVES OF DERMATOLOGY, 1976, 112 (07) :998-1000
[6]  
Edmondson SR, 1999, J CELL PHYSIOL, V179, P201, DOI 10.1002/(SICI)1097-4652(199905)179:2<201::AID-JCP10>3.0.CO
[7]  
2-9
[8]   Cole Disease Results from Mutations in ENPP1 [J].
Eytan, Ori ;
Morice-Picard, Fanny ;
Sarig, Ofer ;
Ezzedine, Khaled ;
Isakov, Ofer ;
Li, Qiaoli ;
Ishida-Yamamoto, Akemi ;
Shomron, Noam ;
Goldsmith, Tomer ;
Fuchs-Telem, Dana ;
Adir, Noam ;
Uitto, Jouni ;
Orlow, Seth J. ;
Taieb, Alain ;
Sprecher, Eli .
AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (04) :752-757
[9]   A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease [J].
Gabaton, Nina ;
Kannu, Peter ;
Pope, Elena ;
Shugar, Andrea ;
Lara-Corrales, Irene .
PEDIATRIC DERMATOLOGY, 2020, 37 (05) :868-871
[10]   Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: A Japanese family with epidermolysis bullosa simplex with mottled pigmentation [J].
Horiguchi, Y ;
Sawamura, D ;
Mori, R ;
Nakamura, H ;
Takahashi, K ;
Shimizu, H .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 125 (01) :83-85