Molecular Basis of the Clinical Features of Al-Awadi-Raas-Rothschild (Limb/Pelvis/Uterus-Hypoplasia/Aplasia) Syndrome (AARRS) and Fuhrmann Syndrome

被引：13

作者：

Al-Qattan, M. M. ^{[1
]}

机构：

[1] King Saud Univ, Div Plast Surg, Riyadh 11415, Saudi Arabia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161卷 / 09期

关键词：

WNT7A; mutations; human; WNT SIGNALING PATHWAY; CONGENITAL DUPLICATION; CARTILAGE DEVELOPMENT; SCHINZEL-PHOCOMELIA; MISSENSE MUTATION; LIMB DEVELOPMENT; GENE-EXPRESSION; SONIC HEDGEHOG; FEEDBACK LOOP; IN-VIVO;

D O I：

10.1002/ajmg.a.35437

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This paper reviews the molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia-aplasia) (AARRS) syndrome and Fuhrmann syndrome. Human WNT7A mutations are also reviewed. Based on this review, these mutations will be classified into two main groups of phenotypes: Fuhrmann and AARRS phenotypes in which there is partial and complete loss of WNT7A functions, respectively. (c) 2013 Wiley Periodicals, Inc.

引用

页码：2274 / 2280

页数：7

共 48 条

[41] PATHOLOGICAL FEATURES AND PRENATAL-DIAGNOSIS IN THE NEWLY RECOGNIZED LIMB PELVIS-HYPOPLASIA APLASIA SYNDROME [J].

RAASROTHSCHILD, A ;

GOODMAN, RM ;

MEYER, S ;

KATZNELSON, MB ;

WINTER, ST ;

GROSS, E ;

TAMARKIN, M ;

BENAMI, T ;

NEBEL, L ;

MASHIACH, S .

JOURNAL OF MEDICAL GENETICS, 1988, 25 (10) :687-697

[42] Inhibition of chondrogenesis by wnt gene expression in vivo and in vitro [J].

Rudnicki, JA ;

Brown, AMC .

DEVELOPMENTAL BIOLOGY, 1997, 185 (01) :104-118

[43]

SCHINZEL A, 1990, HUM GENET, V84, P539

[44]

Stott NS, 1990, J CELL PHYSL, V180, P314

[45] Non-canonical Wnt signaling regulates cell polarity in female reproductive tract development via van gogh-like 2 [J].

Vandenberg, Alysia L. ;

Sassoon, David A. .

DEVELOPMENT, 2009, 136 (09) :1559-1570

[46] Wnt signaling, Ca2+, and cyclic GMP:: Visualizing frizzled functions [J].

Wang, HY ;

Malbon, CC .

SCIENCE, 2003, 300 (5625) :1529-1530

[47] Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome [J].

Woods, C. G. ;

Stricker, S. ;

Seemann, P. ;

Stern, R. ;

Cox, J. ;

Sherridan, E. ;

Roberts, E. ;

Springell, K. ;

Scott, S. ;

Karbani, G. ;

Sharif, S. M. ;

Toomes, C. ;

Bond, J. ;

Kumar, D. ;

Al-Gazali, L. ;

Mundlos, S. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (02) :402-408

[48] INTERACTION BETWEEN THE SIGNALING MOLECULES WNT7A AND SHH DURING VERTEBRATE LIMB DEVELOPMENT - DORSAL SIGNALS REGULATE ANTEROPOSTERIOR PATTERNING [J].

YANG, YZ ;

NISWANDER, L .

CELL, 1995, 80 (06) :939-947

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