Mutation Analysis of SOX9 and Single Copy Number Variant Analysis of the Upstream Region in Eight Patients With Campomelic Dysplasia and Acampomelic Campomelic Dysplasia

被引：15

作者：

Wada, Yuka ^{[1
]}

Nishimura, Gen ^{[2
]}

Nagai, Toshiro ^{[3
]}

Sawai, Hideaki ^{[4
]}

Yoshikata, Mayumi ^{[5
]}

Miyagawa, Shinichirou ^{[6
]}

Hanita, Takushi ^{[7
]}

Sato, Seiji ^{[8
]}

Hasegawa, Tomonobu ^{[9
]}

Ishikawa, Shumpei ^{[10
]}

Ogatai, Tsutomu

机构：

[1] Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Setagaya Ku, Tokyo 1578535, Japan

[2] Tokyo Metropolitan Kiyose Childrens Hosp, Dept Radiol, Kiyose, Japan

[3] Dokkyo Med Univ, Dept Pediat, Koshigaya, Japan

[4] Kyoto Univ, Genet Counseling & Clin Res Unit, Kyoto, Japan

[5] Hyogo Childrens Hosp, Dept Neonatol, Kobe, Hyogo, Japan

[6] Kure Med Ctr, Natl Hosp Org, Dept Pediat, Kure, Japan

[7] Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan

[8] Saitama City Hosp, Dept Pediat, Saitama, Japan

[9] Keio Univ, Sch Med, Dept Pediat, Tokyo, Japan

[10] Univ Tokyo, Adv Sci & Technol Res Ctr, Grad Sch Med, Dept Pathol,Genome Sci Div, Tokyo, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 12期

关键词：

AUTOSOMAL SEX REVERSAL; TRANSLOCATION BREAKPOINTS; ARRAY; GENE; SRY;

D O I：

10.1002/ajmg.a.33107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：2882 / 2885

页数：4

共 17 条

[1]

Cameron FJ, 1997, HUM MUTAT, V9, P388

[2] High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome [J].

Fujii, Katsunori ;

Ishikawa, Shumpei ;

Uchikawa, Hideki ;

Komura, Daisuke ;

Shapero, Michael H. ;

Shen, Fan ;

Hung, Jing ;

Arai, Hiroshi ;

Tanaka, Yoko ;

Sasaki, Kimio ;

Kohno, Yoichi ;

Yamada, Masao ;

Jones, Keith W. ;

Aburatani, Hiroyuki ;

Miyashita, Toshiyuki .

HUMAN GENETICS, 2007, 122 (05) :459-466

[3]

Hageman RM, 1998, HUM MUTAT, pS112

[4] The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9] [J].

Harley, VR ;

Clarkson, MJ ;

Argentaro, A .

ENDOCRINE REVIEWS, 2003, 24 (04) :466-487

[5] Fine mapping of chromosome 17 translocation breakpoints ≥900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia [J].

Hill-Harfe, KL ;

Kaplan, L ;

Stalker, HJ ;

Zori, RT ;

Pop, R ;

Scherer, G ;

Wallace, MR .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (04) :663-671

[6] Allelic dosage analysis with genotyping microarrays [J].

Ishikawa, S ;

Komura, D ;

Tsuji, S ;

Nishimura, K ;

Yamamoto, S ;

Panda, B ;

Huang, J ;

Fukayama, M ;

Jones, KW ;

Aburatani, H .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2005, 333 (04) :1309-1314

[7]

KWOK C, 1995, AM J HUM GENET, V57, P1028

[8] Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia [J].

Leipoldt, M. ;

Erdel, M. ;

Bien-Willner, G. A. ;

Smyk, M. ;

Theurl, M. ;

Yatsenko, S. A. ;

Lupski, J. R. ;

Lane, A. H. ;

Shanske, A. L. ;

Stankiewicz, P. ;

Scherer, G. .

CLINICAL GENETICS, 2007, 71 (01) :67-75

[9] ACAMPOMELIC CAMPOMELIC DYSPLASIA [J].

MACPHERSON, RI ;

SKINNER, SA ;

DONNENFELD, AE .

PEDIATRIC RADIOLOGY, 1989, 20 (1-2) :90-93

[10] A CLINICAL AND GENETIC-STUDY OF CAMPOMELIC DYSPLASIA [J].

MANSOUR, S ;

HALL, CM ;

PEMBREY, ME ;

YOUNG, ID .

JOURNAL OF MEDICAL GENETICS, 1995, 32 (06) :415-420

← 1 2 →