NOVEL GPC3 GENE MUTATION IN SIMPSON-GOLABIBEHMEL
SYNDROME WITH ENDOCRINE ANOMALIES:
A CASE REPORT
Bu W, Zhu M, Li S, Liu H, Liu X,
*Corresponding Author: Xiaomin Liu, M.D., Department of Neurology, the First Affiliated Hospital
of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, 16766 Jingshi
Road, Jinan 250014, Shandong, People’s Republic of China. Tel: +86-531-89269012. Fax: +86-531-
82967114. E-mail: bosucn@163.com
page: 95
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INTRODUCTION
Simpson-Golabi-Behmel syndrome (SGBS) represents
a rare X-linked recessive inherited overgrowth syndrome
caused by GPC3 gene mutations [1]. The phenotype
is highly heterogeneous in patients, including prenatal and
postnatal overgrowth, particular craniofacial characteristics,
supernumerary nipples, organomegaly, heart or renal
defects, gastrointestinal and genitourinary malformations,
skeletal or hand abnormalities and tumor predisposition
[2,3]. Here, we describe a novel GPC3 gene mutation in
a Chinese SGBS patient, who presented with endocrine
anomalies.
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