Evidence for a New Fumarate Hydratase Gene Mutation in a Unilateral Type 2 Segmental Leiomyomatosis

被引：8

作者：

Parmentier, Laurent ^{[1
]}

Tomlinson, Ian ^{[2
]}

Happle, Rudolf ^{[3
]}

Borradori, Luca ^{[1
]}

机构：

[1] Univ Hosp Geneva, Dept Dermatol, Geneva, Switzerland

[2] Canc Res UK, Mol & Populat Genet Lab, London, England

[3] Univ Marburg, Dept Dermatol, Marburg, Germany

来源：

DERMATOLOGY | 2010年 / 221卷 / 02期

关键词：

Leiomyomatosis; Fumarate hydratase; Mosaicism; HAILEY-HAILEY-DISEASE; RENAL-CELL CANCER; CUTANEOUS LEIOMYOMATOSIS; HEREDITARY LEIOMYOMATOSIS; MULTIPLE GLOMANGIOMAS; MANIFESTATION; INVOLVEMENT; DEFICIENCY; FAMILY;

D O I：

10.1159/000315068

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Background: Multiple cutaneous and uterine leiomyomata syndrome (MCUL; MIM 150800) is a rare condition that sometimes predisposes to renal cancer. It is caused by deleterious mutations in the fumarate hydratase (FH) gene. In many patients, skin leiomyomas have been reported to develop according to a segmental type 1 or type 2 distribution. We report a patient showing multiple leiomyomas distributed according to a segmental type 2 distribution and covering several areas exclusively on the left side of his body. Objective: To search for a specific mutation in the FH gene associated with this phenotype. Methods: Genomic DNA from peripheral blood leucocytes of the proband was sequenced and screened for mutation of the FH gene. Results: Heterozygosity for an as yet undescribed mutation c.695delG, leading to a truncated protein p. Gly232AspfsX24, was found. Conclusion: We report a new mutation in the FH gene and discuss the unusual pattern of purely unilateral distribution in the present case. Copyright (C) 2010 S. Karger AG, Basel

引用

页码：149 / 153

页数：5

共 26 条

[11]

2-D

[12]

Happle R, 2007, PEDIATR DERMATOL, V24, P448

[13] Segmental manifestation of Darier disease -: What is the genetic background in type 1 and type 2 mosaic phenotypes? [J].

Itin, PH ;

Büchner, SA ;

Happle, R .

DERMATOLOGY, 2000, 200 (03) :254-257

[14]

König A, 2000, EUR J DERMATOL, V10, P265

[15]

König A, 2001, ACTA DERM-VENEREOL, V81, P383

[16]

König A, 2000, EUR J DERMATOL, V10, P590

[17] Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical Cushing syndrome: A clinical and molecular genetic investigation [J].

Matyakhina, L ;

Freedman, RJ ;

Bourdeau, I ;

Wei, MH ;

Stergiopoulos, SG ;

Chidakel, A ;

Walther, M ;

Abu-Asab, M ;

Tsokos, M ;

Keil, M ;

Toro, J ;

Linehan, WM ;

Stratakis, CA .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (06) :3773-3779

[18]

Murata Y, 2001, EUR J DERMATOL, V11, P191

[19] Two cases of segmental multiple glomangiomas in a family:: Type 1 or type 2 segmental manifestation? [J].

Peña-Penabad, C ;

García-Silva, J ;

del Pozo, J ;

Yebra-Pimentel, MT ;

Fonseca, E ;

Cuevas, J ;

Contreras, F .

DERMATOLOGY, 2000, 201 (01) :65-67

[20] Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept [J].

Poblete-Gutiérrez, P ;

Wiederholt, T ;

König, A ;

Jugert, FK ;

Marquardt, Y ;

Rübben, A ;

Merk, HF ;

Happle, R ;

Frank, J .

JOURNAL OF CLINICAL INVESTIGATION, 2004, 114 (10) :1467-1474

← 1 2 3 →