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Leopard syndrome: a report of five cases from one family in two generations.

作者信息

Begić Fatima, Tahirović Husref, Kardašević Mediha, Kalev Ingrid, Muru Kai

机构信息

Department of Pediatrics, General Hospital "Dr. Irfan Ljubijankić", Bihać, Bosnia and Herzegovina.

出版信息

Eur J Pediatr. 2014 Jun;173(6):819-22. doi: 10.1007/s00431-013-2243-9. Epub 2014 Jan 9.

DOI:10.1007/s00431-013-2243-9
PMID:24401936
Abstract

UNLABELLED

This is the first reported family with Leopard syndrome (LS) from Bosnia and Herzegovina. We report five cases of LS from two generations of the same family. In the present series of patients from one family, all patients carry the same recurrent mutation Y279C in the PTPN11 gene, exhibiting different phenotypes and a variable expression of multiple lentigines. The diagnosis may be on clinical basis as the diagnostic clues of LS are: multiple lentigines and cafè-au-lait-spots, short stature, distinctive face, congenital heart disease, conduction abnormalities, abnormal genitalia, and sensorineural deafness.

CONCLUSION

the clinical diagnosis of LS should be molecularly confirmed in the patient.

摘要

相似文献

1
Leopard syndrome: a report of five cases from one family in two generations.
Eur J Pediatr. 2014 Jun;173(6):819-22. doi: 10.1007/s00431-013-2243-9. Epub 2014 Jan 9.
2
Leopard syndrome.豹皮综合征
Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13.
3
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.携带全球复发性p.Tyr279Cys PTPN11突变的豹皮综合征患者的表型多样性。
Arch Dermatol Res. 2015 Dec;307(10):891-5. doi: 10.1007/s00403-015-1597-4. Epub 2015 Sep 16.
4
LEOPARD syndrome: clinical diagnosis in the first year of life.豹皮综合征：出生后第一年的临床诊断
Am J Med Genet A. 2006 Apr 1;140(7):740-6. doi: 10.1002/ajmg.a.31156.
5
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.LEOPARD 综合征伴 PTPN11 基因突变 Y279C 及不同皮肤表现：两例病例报告及文献复习。
Eur J Pediatr. 2010 Apr;169(4):469-73. doi: 10.1007/s00431-009-1058-1. Epub 2009 Sep 20.
6
Leopard syndrome.豹皮综合征。
Dermatol Online J. 2008 Mar 15;14(3):7.
7
LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.无听力丧失或肺动脉狭窄的豹综合征：2例报告
Actas Dermosifiliogr. 2015 May;106(4):e19-22. doi: 10.1016/j.ad.2014.11.004. Epub 2014 Dec 24.
8
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.一名患有非典型豹皮综合征儿童中PTPN11热点突变的鉴定。
Mol Med Rep. 2016 Sep;14(3):2639-43. doi: 10.3892/mmr.2016.5547. Epub 2016 Jul 27.
9
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".PTPN11基因突变：将谷氨酰胺510谷氨酸突变与“豹皮综合征表型”联系起来。
Eur J Pediatr. 2006 Nov;165(11):803-5. doi: 10.1007/s00431-006-0163-7. Epub 2006 May 30.
10
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).家系中具有非典型临床表现的病例，经遗传学诊断为 LEOPARD 综合征（多发性黑子综合征）。
Int J Dermatol. 2010 Oct;49(10):1146-51. doi: 10.1111/j.1365-4632.2010.04559.x.

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The First Vietnamese Patient of LEOPARD Syndrome due to a Mutation: A Case Report and Review of the Literature.首例因突变导致豹皮综合征的越南患者：病例报告及文献综述
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本文引用的文献

1
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene.由PTPN11基因中Tyr279Cys突变引起的豹皮综合征
Mol Syndromol. 2012 Apr;2(6):251-253. doi: 10.1159/000335995. Epub 2012 Jan 31.
2
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.LEOPARD 综合征伴 PTPN11 基因突变 Y279C 及不同皮肤表现：两例病例报告及文献复习。
Eur J Pediatr. 2010 Apr;169(4):469-73. doi: 10.1007/s00431-009-1058-1. Epub 2009 Sep 20.
3
Leopard syndrome.豹皮综合征
Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13.
4
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.豹皮综合征中的PTPN11（Shp2）突变具有显性负性效应，而非激活效应。
J Biol Chem. 2006 Mar 10;281(10):6785-92. doi: 10.1074/jbc.M513068200. Epub 2005 Dec 23.
5
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.人类疾病中种系和体细胞PTPN11突变的多样性及功能后果。
Am J Hum Genet. 2006 Feb;78(2):279-90. doi: 10.1086/499925. Epub 2005 Dec 7.
6
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.豹皮综合征患者的PTPN11突变：一项法国多中心研究经验
J Med Genet. 2004 Nov;41(11):e117. doi: 10.1136/jmg.2004.021451.
7
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.30例多发性雀斑样痣LEOPARD综合征患者的临床与分子分析
J Med Genet. 2004 May;41(5):e68. doi: 10.1136/jmg.2003.013466.
8
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.7例日本努南综合征患者的PTPN11（蛋白酪氨酸磷酸酶，非受体型11）突变
J Clin Endocrinol Metab. 2002 Aug;87(8):3529-33. doi: 10.1210/jcem.87.8.8694.
9
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.基于PTPN11基因对多发性雀斑样痣/豹皮综合征和努南综合征进行分组。
Am J Hum Genet. 2002 Aug;71(2):389-94. doi: 10.1086/341528. Epub 2002 Jun 7.
10
Multiple lentigines syndrome. Case report and review of the literature.多发性雀斑样痣综合征。病例报告及文献复习。
Am J Med. 1976 Mar;60(3):447-56. doi: 10.1016/0002-9343(76)90764-6.