Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1.6-Mb deletion of Xp22.31

被引：12

作者：

Nagtzaam, I. F. ^{[1
,3
]}

Stegmann, A. P. A. ^{[2
,3
]}

Steijlen, P. M. ^{[1
,3
]}

Herbergs, J. ^{[2
]}

Van Lent-Albrechts, J. A. ^{[2
]}

Van Geel, M. ^{[1
,2
,3
]}

Van Steensel, M. A. M. ^{[1
,3
]}

机构：

[1] Maastricht Univ, Med Ctr, Dept Dermatol, NL-6202 AZ Maastricht, Netherlands

[2] Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands

[3] Maastricht Univ, Med Ctr, GROW Sch Oncol & Dev Biol, NL-6202 AZ Maastricht, Netherlands

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2012年 / 166卷 / 04期

关键词：

MISSENSE MUTATION; FAMILY; GENE;

D O I：

10.1111/j.1365-2133.2011.10685.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：905 / 907

页数：3

共 10 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. [J].

del Castillo, I ;

Villamar, M ;

Moreno-Pelayo, MA ;

del Castillo, FJ ;

Alvarez, A ;

Tellería, D ;

Menéndez, I ;

Moreno, F .

NEW ENGLAND JOURNAL OF MEDICINE, 2002, 346 (04) :243-U1

[3] Genetic heterogeneity of KID syndrome:: Identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia [J].

Jan, AY ;

Amin, S ;

Ratajczak, P ;

Richard, G ;

Sybert, VP .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 122 (05) :1108-1113

[4] Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation [J].

Kanda, M. ;

Natsuga, K. ;

Nishie, W. ;

Akiyama, M. ;

Nagasaki, A. ;

Shimizu, T. ;

Shimizu, H. .

BRITISH JOURNAL OF DERMATOLOGY, 2009, 160 (02) :465-468

[5] Keratitis-ichthyosis-deafness syndrome:: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients [J].

Mazereeuw-Hautier, J. ;

Bitoun, E. ;

Chevrant-Breton, J. ;

Man, S. Y. K. ;

Bodemer, C. ;

Prins, C. ;

Antille, C. ;

Saurat, J. -H. ;

Atherton, D. ;

Harper, J. I. ;

Kelsell, D. P. ;

Hovnanian, A. .

BRITISH JOURNAL OF DERMATOLOGY, 2007, 156 (05) :1015-1019

[6] Modifier genes in mice and humans [J].

Nadeau, JH .

NATURE REVIEWS GENETICS, 2001, 2 (03) :165-174

[7] Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma [J].

Richard, G ;

White, TW ;

Smith, LE ;

Bailey, RA ;

Compton, JG ;

Paul, DL ;

Bale, SJ .

HUMAN GENETICS, 1998, 103 (04) :393-399

[8] GLYCINE LOOPS IN PROTEINS - THEIR OCCURRENCE IN CERTAIN INTERMEDIATE FILAMENT CHAINS, LORICRINS AND SINGLE-STRANDED RNA-BINDING PROTEINS [J].

STEINERT, PM ;

MACK, JW ;

KORGE, BP ;

GAN, SQ ;

HAYNES, SR ;

STEVEN, AC .

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES, 1991, 13 (03) :130-139

[9] The human intermediate filament database: Comprehensive information on a gene family involved in many human diseases [J].

Szeverenyi, Ildiko ;

Cassidy, Andrew J. ;

Chung, Cheuk Wang ;

Lee, Bernett Tk. ;

Common, John E. A. ;

Ogg, Stephen C. ;

Chen, Huiiia ;

Sim, Shu Yin ;

Goh, Walter L. R. ;

Ng, Kee Woei ;

Simpson, John A. ;

Chee, Li Lian ;

Eng, Goi Hui ;

Li, Bin ;

Lunny, Declan P. ;

Chuon, Danny ;

Venkatesh, Aparna ;

Khoo, Kian Hoe ;

McLean, W. H. Irwin ;

Lim, Yun Ping ;

Lane, E. Birgitte .

HUMAN MUTATION, 2008, 29 (03) :351-360

[10] A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus [J].

Terrinoni, A ;

Puddu, P ;

Didona, B ;

De Laurenzi, V ;

Candi, E ;

Smith, FJD ;

McLean, WHI ;

Melino, G .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2000, 114 (06) :1136-1140

← 1 →