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中华临床医师杂志(电子版) ›› 2017, Vol. 11 ›› Issue (20) : 2323 -2326. doi: 10.3877/cma.j.issn.1674-0785.2017.20.006

所属专题: 文献

综述

泛发性雀斑样痣的临床特征及遗传机制
魏露露1, 崔红宙2, 郭书萍2,()   
  1. 1. 030001 太原,山西医科大学研究生学院
    2. 030001 太原,山西医科大学第一医院皮肤科
  • 收稿日期:2017-03-06 出版日期:2017-10-15
  • 通信作者: 郭书萍
  • 基金资助:
    国家自然科学基金(81502714)

Clinical features and genetic mechanisms of generalized lentiginosis

Lulu Wei1, Hongzhou Cui2, Shuping Guo2,()   

  1. 1. Graduate School of Shanxi Medical University, Taiyuan 030000, China
    2. Department of Dermatology, the First Hospital of Shanxi Medical University, Taiyuan 030001, China
  • Received:2017-03-06 Published:2017-10-15
  • Corresponding author: Shuping Guo
  • About author:
    Corresponding author: Guo Shuping, Email:
引用本文:

魏露露, 崔红宙, 郭书萍. 泛发性雀斑样痣的临床特征及遗传机制[J]. 中华临床医师杂志(电子版), 2017, 11(20): 2323-2326.

Lulu Wei, Hongzhou Cui, Shuping Guo. Clinical features and genetic mechanisms of generalized lentiginosis[J]. Chinese Journal of Clinicians(Electronic Edition), 2017, 11(20): 2323-2326.

泛发性雀斑样痣(GL)是一类常染色体显性遗传病,临床表现以多发性黑子合并心血管疾病、智力发育迟缓、神经性耳聋、头面骨发育异常、性腺发育不全、体格矮小等异常。目前研究表明GL患者的发病主要与PTPN11、BRAF、RAF1、SASH1致病基因突变有关。本文对GL的遗传学研究进展进行综述。

Generalized lentiginosis is an autosomal dominant inherited disorder caused by mutations in the PTPN11, RAF1, BRAF, and SASH1 genes. Its characteristic features include lentigines with cardiovascular disease, mental retardation, neurological deafness, craniofacial dysmorphism, gonadal hypoplasia, short physique, and other abnormalities. In this article, we review the progress in the understanding of the genetics of generalized lentiginosisi.

表1 Leopard综合征基因型与表型(OMIM)
[1]
赵辨. 中国临床皮肤病学 [M]. 南京: 江苏科技出版社, 2010: 1239.
[2]
O′Neill JF, James WD. Inherited patterned lentiginosis in blacks [J]. Arch. Derm, 1989, 125: 1231-1235.
[3]
Pacheco TR, Oreskovich N, FainGenetic P, et al. Heterogeneity in the multiple lentigines/LEOPARD/Noonan syndromes [J]. Am J Med Gen, 2004, 127A(3): 324-326.
[4]
Shellman YG, Lambert KA, Brauweiler A, et al. SASH1 is involved in an autosomal dominant lentiginous phenotype [J]. J Invest Dermatol, 2015, 135(12): 3192-3194.
[5]
Zhou D, Wei Z, Deng S, et al. SASH1 regulates melanocytetransepithelial migration through a novel Gats-SASH1- IQGAPl-E-Cadherindependent pathway [J]. Cell Signal, 2013, 25(6): 526-1538.
[6]
Xing Q, Chen X, Wang M, et al. A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21. 1-q22. 3 [J]. Hum Genet, 2005, 117(2-3): 154-159.
[7]
Gorlin RJ, Anderson RC, Blaw M. Multiple lentigenes syndrome [J]. Am J Dis Child, 1969, 117(6): 652-662.
[8]
Cheng YP, Chiu HY, Hsiao TL, et al. Scalp melanoma in a woman with LEOPARD syndrome: possible implication of PTPN11 signaling in melanoma pathogenesis [J]. J Am Acad Dermatol, 2013, 69(4): e186-e187.
[9]
Voron AD, Hatfeild HH, Kolkhoff RK. Multiple lentigines syndrome: case report and reviwe of the literature [J]. Am J Med, 1976, 60(3): 447-456.
[10]
Faienza MF, Giordani L, Ferraris M, et al. PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? [J]. Pediatr Cardiol, 2009, 30(7): 1012-1015.
[11]
Digilio MC, Conti E, Sarkozy A, et al. Grouping of multiple-lentigines/ LEOPARD and Noonan syndromes on the PTPN11 gene [J]. Am J Hum Genet, 2002, 71(2): 389-394.
[12]
Nemes E, Farkas K, Kocsis-Deák B, et al. Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p. Tyr279Cys PTPN11 mutation [J]. Arch Dermatol Res, 2015, 307(10): 891-895.
[13]
Conti E, Dottorini T, Sarkozy A, et al. A Novel PTPN11 Mutation in LEOPARD Syndrome [J]. Hum Mutat, 2003, 21(6): 654.
[14]
Yoshida R, Nagai T, Hasegawa T, et al. Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome [J]. Am J Med Gen, 2004, 130A(4): 432-434.
[15]
Kalidas K, Shaw AC, Crosby AH, et al. Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11 [J]. J Hum Genet, 2005, 50(1): 21-25.
[16]
臧东杰,许星海,周城, 等. Leopard综合征一例PTPN11基因突变研究 [J]. 中华皮肤科杂志, 2015, 48(6): 429-430.
[17]
Motegi S, Yokoyama Y, Ogino S, et al. Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation [J]. Acta Derm Venereol, 2015, 95(8): 978-984.
[18]
Yu ZH, Zhang RY, Walls CD, et al. Molecular basis of gain-of- function Leopard syndrome-associated SHP2 mutations [J]. Biochemistry, 2014, 53(25): 4136·4151.
[19]
Lauriol J, Jaffre F, Kontaridis MI. The role of the protein tyrosine phosphatase SHP2 in cardiacdevelopment and disease [J]. Semin Cell Dev Biol, 2015, 37: 73-81.
[20]
Lapinski PE, Meyer MF, Feng GS, et al. Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice [J]. Dis Model Mech, 2013, 6(6): 1448-1458.
[21]
BoneRi M, Rodriguez-Martinez V, Paardekooper OJ, et al. Distinct and overlapping functions of PTPN11 genes in Zebrafish development [J]. PLoS One, 2014, 9(4): e94884.
[22]
Pandit B, Sarkozy A, Pennacchio LA, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy [J]. Nature Genet, 2007, 39(8): 1007-1012.
[23]
Martínez-Quintana E, Rodríguez-González E. LEOPARD Syndrome: Clinical Features and Gene Mutations [J]. Mol Syndromol, 2012, 3(4): 145-157.
[24]
Sarkozy A, Carta C, Moretti S, et al. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum [J]. Hum Mutat, 2009, 30(4): 695-702.
[25]
Koudova M, Seemanova E, Zenker M. Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence [J]. Europ J Med, Genet, 2009, 52(5): 337-340.
[26]
Amsmeier LS, Paller AS. Pigmentary anomailes in the multiple lengitines syndrome: Is it distinct from LEOPARD syndrome [J]. Pediatr Dermatle, 1996, 13(2): 100-104.
[27]
Seuanez H, Mane-Garzon F, Kolski R. Cardio-cutaneous snydrome (the ″LEOPARD″ syndrome). Review of the literature and a new family [J]. Clin Genet, 1976, 9(3): 266-276.
[28]
Martínez-Quintana E, Rodríguez-González F. Leopard syndrome: clinical features and gene mutations [J]. Mol Syndromol, 2012, 3(4): 145-157.
[29]
Zhou D, Wei Z, Deng S, et al. SASH1 regulates melanocyte transepithelial migration through a novel Gas-SASH1-IQGAPl-E- Cadherin dependent pathway [J]. Cell Signal, 2013, 25(6): 1526-1538.
[30]
Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome [J]. Nature Genet, 2001, 29(4): 465-468.
[31]
Rodriguez-Viciana P, Tetsu O, Tidyman WE, et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome [J]. Science, 2006, 311(5765): 1287-1290.
[32]
Bezniakow N, Gos M, Obersztyn E. The RASopathies as an example of RAS/MAPK pathway disturbances-clinical presentation and molecular pathogenesis of selected syndromes [J]. Dev Pedod Med, 2014, 18(3): 285-296.
[33]
Lodish MB, Stratakis CA. The differential diagnosis of familial lentiginosis syndromes [J]. Fam Cancer, 2011, 10(3): 481-490.
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