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Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report Cover

Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report

By: W Bu,  M Zhu,  S Li,  H Liu and  X Liu  
Open Access
|Jun 2022

Figures & Tables

Figure 1

Pedigree and the patient. (A) Pedigree of the family with the Simpson-Golabi-Behmel syndrome. The proband is indicated by an arrow (B, C, D, E, F). Craniofacial features and trunk and hand abnormalities of the patient. Note the abnormal tongue shape. Circles indicate supernumerary nipples.
Pedigree and the patient. (A) Pedigree of the family with the Simpson-Golabi-Behmel syndrome. The proband is indicated by an arrow (B, C, D, E, F). Craniofacial features and trunk and hand abnormalities of the patient. Note the abnormal tongue shape. Circles indicate supernumerary nipples.

Figure 2

DNA sequencing results. (A) Wild-type GPC3 gene sequence. (B) The hemizygous GPC3 gene mutation, c.185delT, in the proband. (C) The heterozygous mutation carrier. Black frames indicate the c.185 nucleotide.
DNA sequencing results. (A) Wild-type GPC3 gene sequence. (B) The hemizygous GPC3 gene mutation, c.185delT, in the proband. (C) The heterozygous mutation carrier. Black frames indicate the c.185 nucleotide.

Endocrine evaluation of the patient with the GPC3 c_185delT mutation_

Laboratory TestPatient ValueNormal RangeComment
Follicle-stimulating hormone3.16 IU/L1.50–12.40 IU/L (male)normal
Luteinizing hormone7.27 IU/L1.70–8.60 IU/L (male)normal
Prolactin46.65 ng/mL4.04–15.20 ng/mLhigh
Testosterone4.77 ng/mL0.03–0.68 ng/mLhigh
Estradiol<5.00 ng/L25.80–60.70 ng/L (male)low
Progesterone0.221 μg/L0.200–1.400 μg/L (male)normal
Thyroid-stimulating hormone5.370 μIU/mL0.270–4.200 μIU/mL (male)high
Free triiodothyronine4.54 pmol/L3.50–7.70 pmol/Lnormal
Free thyroxine17.38 pmol/L12.00–22.00 pmol/Lnormal
Adrenocortoctropic hormone48.19 pg/mL5.00–60.00 pg/mLnormal
Random cortisol278.20 nmol/L (8:00 a.m.);125.60 nmol/L (4:00 p.m.)172.00–497.00 nmol/L (a.m.)71.10–286.00 nmol/L (p.m.)normalnormal
Growth hormone1.65 ng/mL0.12–8.90 ng/mLnormal
Language: English
Page range: 95 - 98
Published on: Jun 5, 2022
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2022 W Bu, M Zhu, S Li, H Liu, X Liu, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.