Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation

被引：9

作者：

Zhang, X. -B. ^{[1
]}

Wei, S. -C. ^{[1
]}

Li, C. -X. ^{[2
]}

Xu, X. ^{[1
]}

He, Y. -Q. ^{[1
]}

Luo, Q. ^{[1
]}

Li, J. ^{[1
]}

Wang, Y. -F. ^{[1
]}

机构：

[1] Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou 510095, Guangdong, Peoples R China

[2] Dongguan Hosp Chron Dis, Dongguan, Guangdong, Peoples R China

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2009年 / 34卷 / 03期

关键词：

DANDY-WALKER MALFORMATION; KID-SYNDROME; ENCODING CONNEXIN-26; MISSENSE MUTATION; ERYTHROKERATODERMIA VARIABILIS; ECTODERMAL DYSPLASIA; GAP-JUNCTIONS; 13Q DELETION; GENE; COMMUNICATION;

D O I：

10.1111/j.1365-2230.2008.02934.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Keratitis-ichthyosis-deafness syndrome (KID) is a rare congenital disorder. Mutations in the GJB2 gene have recently been identified as the causative mutations of KID. To define the GJB2 mutation in a Chinese patient with KID and brain malformation. Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis. We identified a heterozygous missense mutation (D50N) in the GJB2 gene in this patient. These results indicate that KID syndrome in this patient was caused by a dominant mutation of GJB2.

引用

页码：309 / 313

页数：5

共 28 条

[1] Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"?: Findings in a fetus supporting previous observations [J].

Alanay, Y ;

Aktas, D ;

Utine, E ;

Talim, B ;

Önderoglu, L ;

Çaglar, M ;

Tunçbilek, E .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 136A (03) :265-268

[2] De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome [J].

Alvarez, A ;

del Castillo, I ;

Pera, A ;

Villamar, M ;

Moreno-Pelayo, MA ;

Moreno, F ;

Moreno, R ;

Tapia, MC .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 117A (01) :89-91

[3] 13q deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients [J].

Ballarati, Lucia ;

Rossi, Elena ;

Bonati, Maria Teresa ;

Gimelli, Stefania ;

Maraschio, Paola ;

Finelli, Palma ;

Giglio, Sabrina ;

Lapi, Elisabetta ;

Bedeschi, Maria Francesca ;

Guerneri, Silvana ;

Arrigo, Giulia ;

Patricelli, Maria Grazia ;

Mattina, Teresa ;

Guzzardi, Oriana ;

Pecile, Vanna ;

Police, Adalgisa ;

Scarano, Gioacchino ;

Larizza, Lidia ;

Zuffardi, Orsetta ;

Giardino, Daniela .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (01)

[4]

BOUDGHENESTAMBOULI O, 1994, ANN DERMATOL VENER, V121, P99

[5]

Burns F.S., 1915, J Cutan Dis, V33, P255

[6] KID syndrome:: Report of a Scandinavian patient with connexin-26 gene mutation [J].

Bygum, A ;

Betz, RC ;

Kragballe, K ;

Steiniche, T ;

Peeters, N ;

Wuyts, W ;

Nöthen, MM .

ACTA DERMATO-VENEREOLOGICA, 2005, 85 (02) :152-155

[7]

CaceresRios H, 1996, PEDIATR DERMATOL, V13, P105

[8] The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions [J].

Foote, CI ;

Zhou, L ;

Zhu, X ;

Nicholson, BJ .

JOURNAL OF CELL BIOLOGY, 1998, 140 (05) :1187-1197

[9] Connexins, connexons, and intercellular communication [J].

Goodenough, DA ;

Goliger, JA ;

Paul, DL .

ANNUAL REVIEW OF BIOCHEMISTRY, 1996, 65 :475-502

[10] GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form [J].

Janecke, AR ;

Hennies, HC ;

Günther, B ;

Gansl, G ;

Smolle, J ;

Messmer, EM ;

Utermann, G ;

Rittinger, O .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 133A (02) :128-131

← 1 2 3 →