First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

Støve, Heidi Kristine; Becher, Naja; Gjørup, V.; Ramsing, Mette; Vogel, Ida; Vestergaard, Else Marie

doi:10.1002/ccr3.902

Cited by 9 publications

(10 citation statements)

References 19 publications

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“…Table details GPC3 mutations published between March 1996 and December 2017 in the international peer‐reviewed literature (PubMed database) and The Human Gene Mutation Database (HGMD professional 2016.4) following HGVS nomenclature guidelines (http://www.HGVS.org) and the reference sequence GenBank entry NM_004484.3. We collected 57 distinct GPC3 mutations detected in 71 unrelated families (Agatep et al., ; Das Bhowmik & Dalal, ; Day & Fryer, ; DiMaio, Yang, Mahoney, McGrath, & Li, ; Ganesamoorthy et al., ; Garavelli et al., ; Gertsch, Kirmani, Ackerman, & Babovic‐Vuksanovic, ; Gurrieri et al., ; Halayem et al., ; Hughes‐Benzie et al., ; Kehrer et al., ; Kosaki et al., ; Li et al., ; Lindsay et al., ; Magini et al., ; Mariani et al., ; Mateos et al., ; Mujezinović et al., ; Ochiai et al., ; Okamoto, Yagi, Imura, & Wada, ; Pilia et al., ; Rodríguez‐Criado et al., ; Romanelli et al., ; Sakazume et al., ; Schmidt, Hollstein, Kaiser, & Gillessen‐Kaesbach, ; Shimojima et al., ; Spencer, Fieggen, Vorster, & Beighton, ; Støve et al., ; Thomas et al., ; Vaisfeld, Pomponi, Pietrobono, Tabolacci, & Neri, ; Veugelers et al., , ; Villarreal et al., ; Weichert et al., ; Xuan, Hughes‐Benzie, & MacKenzie, ; Yano et al., ; Young, Wishnow, & Nigro, ). In this study, we also report 38 GPC3 mutations in 63 additional male patients from 49 unrelated families (Cf.…”

Section: Mutational Spectrummentioning

confidence: 99%

“…Recently, array‐CGH also allowed the detection of GPC3 rearrangements (Cf. Table ) in eight cases of prenatal diagnosis (DiMaio et al., ; Ganesamoorthy et al., ; Magini et al., ; Støve et al., ; Vuillaume et al., ; Weichert et al., ) and, in three postnatal cases of SGBS (Schmidt et al., ; Shimojima et al., ). In our cohort, chromosomal microarray was performed, after PCR, in order to fine‐map rearrangement breakpoints when they occurred at the 5′ and/or 3′end of GPC3 (Cf Table ).…”

Section: Mutational Spectrummentioning

confidence: 99%

“…Nine were detected prenatally by chromosomal microarray (DiMaio et al., ; Ganesamoorthy et al., ; Magini et al., ; Mujezinović et al., ; Støve et al., ; Weichert et al., ) or whole exome sequencing (Magini et al., ) in fetuses with abnormal ultrasound findings. In these fetuses, clinical features including notably fetal overgrowth, craniofacial abnormalities (DiMaio et al., ; Magini et al., ; Mujezinović et al., ; Støve et al., ; Weichert et al., ), and congenital diaphragmatic hernia (Ganesamoorthy et al., ) were retrospectively in line with SGBS diagnosis. Two other variants were detected postnatally by next‐generation sequencing.…”

Section: Conclusion and Future Prospectsmentioning

confidence: 99%

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Mutation update for theGPC3gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

et al. 2018

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Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked multiple congenital anomalies and overgrowth syndrome caused by a defect in the glypican-3 gene (GPC3). Until now, GPC3 mutations have been reported in isolated cases or small series and the global genotypic spectrum of these mutations has never been delineated. In this study, we review the 57 previously described GPC3 mutations and significantly expand this mutational spectrum with the description of 29 novel mutations. Compiling our data and those of the literature, we provide an overview of 86 distinct GPC3 mutations identified in 120 unrelated families, ranging from single nucleotide variations to complex genomic rearrangements and dispersed throughout the entire coding region of GPC3. The vast majority of them are deletions or truncating mutations (frameshift, nonsense mutations) predicted to result in a loss-of-function. Missense mutations are rare and the two which were functionally characterized, impaired GPC3 function by preventing GPC3 cleavage and cell surface addressing respectively. This report by describing for the first time the wide mutational spectrum of GPC3 could help clinicians and geneticists in interpreting GPC3 variants identified incidentally by high-throughput sequencing technologies and also reinforces the need for functional validation of non-truncating mutations (missense, in frame mutations, duplications).

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Section: Mutational Spectrummentioning

confidence: 99%

Section: Mutational Spectrummentioning

confidence: 99%

Section: Conclusion and Future Prospectsmentioning

confidence: 99%

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Mutation update for theGPC3gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

et al. 2018

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“…Several authors have reported certain features on prenatal ultrasound that can facilitate SGB syndrome diagnosis before birth [Chen et al, 1993;Yamashita et al, 1995;Enns et al, 1998;Weichert et al, 2011;Garavelli et al, 2012;Cottereau et al, 2013;Kehrer et al, 2016;Magini et al, 2016;Mujezinović et al, 2016;Støve et al, 2017;Zimmermann and Stanek, 2017]. Table 1 summarizes the described prenatal findings from previously published cases and our cases.…”

Section: Discussionmentioning

confidence: 91%

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

et al. 2018

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Fetal overgrowth and numerous congenital malformations can be detected in every trimester of pregnancy. New technologies in molecular testing, such as chromosomal microarray analysis and next-generation sequencing, continually demonstrate advantages for definitive diagnosis in fetal life. Simpson-Golabi-Behmel (SGB) syndrome is a rare but well-known overgrowth condition that is rarely diagnosed in the prenatal setting. We report 3 cases of SGB syndrome in 2 consecutive pregnancies. In our series, distinctive prenatal sonographic findings led to molecular diagnosis. Exome sequencing from fetal DNA revealed a hemizygous splice site variant in the GPC3 gene: NM_004484.3:c.1166+ 1G>T. The mother is a heterozygous carrier. We also provide an overview of the previously published 57 prenatal cases of SGB syndrome with prevalence estimation of the symptoms to aid prenatal differential diagnosis of fetal overgrowth syndromes.

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“…[13] Different mutations have been described in SGBS type one. [14][15][16][17][18][19][20][21][22] Overgrowth Syndrome caused by mutations in glypican 3 (GPC3) gene is localized on Xq26.1 [23,24] which encrypts glypican-3. [17,19,20,[25][26][27][28][29] that seemingly acting a bad part in growth control by an anonymous fate, However, outcomes from an exhaustive qualified study of growth forms in dual mutants missing GPC3 provided conclusive genetic evidence inconsistent with the theory that GPC3 performances as a growth suppressor.…”

Section: Introductionmentioning

confidence: 99%

Identification of Novel Key Biomarkers in Simpson-Golabi-Behmel Syndrome (SGBS): Evidence from Bioinformatics Analysis

Mustafa¹,

Abdelmoneim²,

Elfadol³

et al. 2019

Int. Ann. Sci.

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The Simpson-Golabi-Behmel Syndrome (SGBS) or overgrowth Syndrome is an uncommon genetic X-linked disorder highlighted by macrosomia, renal defects, cardiac weaknesses and skeletal abnormalities. The purpose of the work was to classify the functional nsSNPs of GPC3 to serve as genetic biomarkers for overgrowth syndrome. The raw data of GPC3 gene were retrieved from dbSNP database and used to examine the most damaging effect using eight functional analysis tools, while we used I-mutant and MUPro to examine the effect of SNPs on GPC3 protein structure; The 3D structure of GPC3 protein is not found in the PDB, so RaptorX was used to create a 3D structural prototype to visualize the amino acids alterations by UCSF Chimera; For biophysical validation we used project HOPE; Lastly we run conservational analysis by BioEdit and Consurf web server respectively. Our results revealed three novel missense mutations (rs1460413167, rs1295603457 and rs757475450) that are that are more likely to be responsible for disturbance in the function and structure of GPC3. This work provides new insight into the molecular basis of overgrowth Syndrome by evidence from bioinformatics analysis. Three novel missense mutations (rs757475450, rs1295603457 and rs1460413167) are more likely to be responsible for disturbance in the function and structure of GPC3; therefore, they may be assisting as genetic biomarkers for overgrowth syndrome. As well as these SNPs can be used for the larger population-based studies of overgrowth syndrome.

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First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

Cited by 9 publications

References 19 publications

Mutation update for theGPC3gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

Mutation update for theGPC3gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

Identification of Novel Key Biomarkers in Simpson-Golabi-Behmel Syndrome (SGBS): Evidence from Bioinformatics Analysis

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