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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Abstract
Simpson-Golabi-Behmel syndrome (SGBS) represents
a rare X-linked recessive syndrome with prenatal
and postnatal overgrowth, coarse facial features, congenital
malformations, organomegaly and an increased risk
of tumors. Mutations on the GPC3 gene, encoding the
glypican-3 protein, have previously been shown to cause
the disease. In this report, a 12-year-old Chinese boy was
hospitalized in our institution for some clinical features
of SGBS. His serum endocrine evaluation showed hormone
level abnormalities, including high prolactin, high
testosterone, high thyroid-stimulating hormone (TSH)
levels, and low estradiol levels. Whole exome sequencing
(WES) was performed in the patient for mutation
analysis and a novel hemizygous mutation, c.185delT,
p.(Leu62Cysfs*22), on the GPC3 gene, was identified.
The mother was a heterozygous carrier. The SGBS patients
might present with endocrine anomalies, which adds to
the clinical heterogeneity of the disease. The novel GPC3
mutation c.185delT expands the mutational spectrum of
the GPC3 gene.
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