Mutation update for the<i>GPC3</i>gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

Vuillaume, Marie‐Laure; Moizard, Marie‐Pierre; Rossignol, Sylvie; Cottereau, Edouard; Vonwill, Sandrine; Alessandri, Jean‐Luc; Busa, Tiffany; Colin, Estelle; Gérard, Marion; Giuliano, Fabienne; Lambert, Laëtitia; Lefevre, M.; Kotecha, Udhaya; Nampoothiri, Sheela; Netchine, Irène; Raynaud, Martine; Brioude, Frédéric; Toutain, Annick

doi:10.1002/humu.23428

Cited by 27 publications

(17 citation statements)

References 67 publications

(110 reference statements)

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“…[3,4] Diagnosis of SGBS1 in males is established by observable clinical manifestations and/or detection of a pathogenic variant of GPC3, or a large duplication of GPC3 and/or GPC4. [5,6] In the present report, we describe a neonate of SGBS1 with a nonsense mutation in GPC3 presenting hypothyroidism and subclinical hypothyroidism.…”

Section: Introductionmentioning

confidence: 85%

Simpson−Golabi−Behmel syndrome type 1 with subclinical hypothyroidism

Zhang

et al. 2019

Medicine

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Rationale:Simpson−Golabi−Behmel syndrome type 1 (SGBS1) is caused by mutations in GPC3 or in both GPC3 and GPC4. Physical manifestations of SGBS1 include fetal overgrowth and macrostomia, macroglossia. Subclinical hypothyroidism has never been reported in SGBS1 cases.Patient concerns:An 8-days-old boy was referred to our hospital with persistent hypoglycemia and special facies. And the infant showed elevated levels of thyroid-stimulating hormone (TSH). Free T4 and free T3 were normal.Diagnoses:Definitive diagnosis of SGBS1 depends on clinical features and genetic testing. A nonsense mutation (c.1515C > A, p. Cys505∗) was tested by whole-exome sequencing.Interventions:Normal blood glucose levels were maintained with glucose infusions. Levothyroxine was given to the patient for treating subclinical hypothyroidism.Outcomes:The parents decided to abandon the treatment of the patient. We learned that the patient died of a lung infection by a telephone follow-up.Lessons:Subclinical hypothyroidism could be added to the known clinical manifestations of SGBS1.

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Section: Introductionmentioning

confidence: 85%

Simpson−Golabi−Behmel syndrome type 1 with subclinical hypothyroidism

Zhang

et al. 2019

Medicine

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“…Children with BWS are also at risk of developing hepatoblastoma ( 24). An x-linked overgrowth syndrome associated with the GPC3 gene, patients with SGBS exhibit macrosomia, macrocephaly, organomegaly, distinct facial features, and abnormalities across most organ systems, including genitourinary anomalies (25). Newborns may experience hypoglycemia or have airway issues secondary to micrognathia and glossoptosis.…”

Section: Moderate Risk Syndromesmentioning

confidence: 99%

Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment

Liu¹,

Suson²

2020

Transl Androl Urol

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Predisposing syndromes associated with an increased risk of Wilms tumor (WT) are responsible for 9-17% of all cases of the malignancy. Due to an earlier age at WT diagnosis and an increased incidence of bilateral and metachronous disease, management of syndromic WT warrants a distinct approach from that of non-syndromic WT. This review of English-language manuscripts about WT focuses on the most common syndromes, surveillance protocols and current treatment strategies. Highlighted syndromes include those associated with WT1, such as WAGR (Wilms-Aniridia-Genitourinary-mental Retardation), Denys-Drash syndrome (DDS), and Frasier syndrome, 11p15 defects, such as Beckwith-Wiedemann syndrome (BWS), among others. General surveillance guidelines include screening renal or abdominal ultrasound every 3-4 months until the age of 5 or 7, depending on the syndrome. Further, some of the predisposing conditions also increase the risk of other malignancies, such as gonadoblastoma and hepatoblastoma. With promising results for nephron-sparing surgery in bilateral non-syndromic WT, there are increasing reports and recommendations to pursue nephron-sparing for these patients who are at greater risk of bilateral, metachronous lesions. In addition to the loss of renal parenchyma from malignancy, many patients are at risk of developing renal insufficiency as part of their syndrome. Although there may be some increase in the complication rate, recurrence free survival seems equivalent. Some conditions require specialized approaches to adjuvant therapy, as their syndrome may make them especially susceptible to side effects.

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“…Up to now, GPC3 remains the only gene surely involved in SGBS. To date, 86 distinct GPC3 variants have been reported in 120-unrelated patients [6]. These variants, mostly inherited, are dispersed throughout the whole-coding region of the gene with no obvious variant hotspots.…”

Section: Mutational Spectrummentioning

confidence: 99%

“…SGBS is very rare and its exact prevalence is unknown. In a recent review of the literature we have identified 152 male patients, belonging to 120-unrelated families, with a GPC3 variant [6]. In their review, Tenorio et al [7] mentioned that 250 patients had been reported in the literature, but they included patients for whom misdiagnosis was possible as no confirmation by a molecular analysis was performed.…”

Section: Analytical Validationmentioning

confidence: 99%