Balkan Journal of Medical Genetics

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

CASE REPORT

A 12-year-old boy was hospitalized at our institution for developmental abnormalities. His family history revealed that he was born to non consanguineous parents [Figure 1(A)], and had macrosomia, with a birth weight 5.80 kg (>97th percentile) height 56.2 cm (>97th percentile) and head circumference 37.6 cm (>97th percentile). At the time of admission, his weight was 50.5 kg (75th- 90th percentile), height 165 cm (>97th percentile) and head circumference 59.6 cm (>97th percentile). Physical examination revealed facial dysmorphism with coarse face, lip thickening, macroglossia with a midline furrow, pectus excavatum, supernumerary nipples, a broad nape and upper back, winged scapula, bilateral large hands and fingertips and nail dysplasia, predominately on the forefinger [Figure 1(B), 1(C), 1(D), 1(E) and (F)]. There was no intellectual disability and mental retardation. Because of these developmental anomalies, he underwent serum endocrine hormone assessment (Table 1). As for the hypothalamic-pituitary-gonadal axis, he had high prolactin (PRL), high testosterone and low estradiol levels. Meanwhile, follicle-stimulating hormone (FSH), luteinizing hormone (LH), and progesterone levels were normal. High thyroid-stimulating hormone (TSH) levels were detected, whereas free triiodothyronine (FT3) and free thyroxine (FT4) levels were normal. The adrenal axis evaluation showed normal adrenocorticotropic hormone (ACTH) and random cortisol levels. Growth hormone (GH) levels were also normal. His 24-hour dynamic ECG revealed sinus rhythm and incomplete right bundle branch block. Echocardiography showed no signs of heart malformation and brain magnetic resonance imaging (MRI) revealed a normal-appearing pituitary. DNA extraction was carried out from the peripheral blood samples collected from the proband, his mother and father after informed consent was obtained. The high-throughput sequencing technology was employed to assess the proband’s whole exome. A specific GPC3 gene mutation was verified by Sanger sequencing in all participants. By sequencing, a hemizygous mutation, c.185delT, p.(Leu62Cysfs*22), was detected in exon 2 of the GPC3 gene in the proband. The mother was a heterozygous carrier [Figure 2(A), 2(B), 2(C)]. The mutation has not previously been reported. It was also not listed in the major databases including the gnomAD, Clinvar, dbSNP, HGMD pro and LOVD. The parents of the patient provided written informed consent for publication of the case details and analyses. This study was approved by the Ethics Committee of Shandong First Medical University, Jinan, Shandong, People’s Republic of China..

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