Simpson–Golabi–Behmel syndrome type 1 in a 27‐week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia

Garavelli, Livia; Gargano, G; Simonte, Graziella; Rosato, Simonetta; Wischmeijer, Anita; Melli, Nives; Braibanti, Silvia; Gelmini, Chiara; Forzano, Francesca; Pietrobono, Roberta; Pomponi, Maria Grazia; Andreucci, Elena; Toutain, Annick; Superti‐Furga, Andrea; Neri, Giovanni

doi:10.1002/ajmg.a.35474

Cited by 14 publications

(11 citation statements)

References 31 publications

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“…Although we could not collect information for all clinical features in all cases and were thus unable to evaluate the precise frequency of rare associations, our study improves significantly the knowledge on SGBS. Our data may be compared with those of the 63 cases carrying a mutation in GPC3 for whom clinical details are available in the literature [Hughes‐Benzie et al, ; Lindsay et al, ; Veugelers et al, ; Okamoto et al, ; Li et al, ; Mariani et al, ; Day and Fryer, ; Rodríguez‐Criado et al, ; Young et al, ; Romanelli et al, ; Sakazume et al, ; Glamuzina et al, ; Gertsch et al, ; Gurrieri et al, ; Yano et al, ; Garavelli et al, ; Thomas et al, ; Li and McDonald, ].…”

Section: Discussionmentioning

confidence: 99%

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

Cottereau¹,

Mortemousque²,

Moizard³

et al. 2013

American J of Med Genetics Pt C

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Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency. In 1996, Glypican 3 (GPC3) was identified as the major gene causing SGBS but the mutation detection rate was only 28-70%, suggesting either genetic heterogeneity or that some patients could have alternative diagnoses. This was particularly suggested by some reports of atypical cases with more severe prognoses. In the family reported by Golabi and Rosen, a duplication of GPC4 was recently identified, suggesting that GPC4 could be the second gene for SGBS but no point mutations within GPC4 have yet been reported. In the genetics laboratory in Tours Hospital, GPC3 molecular testing over more than a decade has detected pathogenic mutations in only 8.7% of individuals with SGBS. In addition, GPC4 mutations have not been identified thus raising the question of frequent misdiagnosis. In order to better delineate the phenotypic spectrum of SGBS caused by GPC3 mutations, and to try to define specific clinical criteria for GPC3 molecular testing, we reviewed the clinical features of all male cases with a GPC3 mutation identified in the two molecular laboratories providing this test in France (Tours and Paris). We present here the results of the analysis of 42 patients belonging to 31 families and including five fetuses and three deceased neonates.

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Section: Discussionmentioning

confidence: 99%

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

Cottereau¹,

Mortemousque²,

Moizard³

et al. 2013

American J of Med Genetics Pt C

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“…At the same time, we identified novel and early US findings that could improve the definition of the prenatal clinical picture of SGBS, and expanded the spectrum of fetal malformations thanks to the identification of anomalies appearing and detectable in the first trimester. We noted brain abnormalities including corpus callosum defects, absent septum pellucidum, cerebellar agenesis, and downward displacement of cerebellum in addition to ventriculomegaly, which had been the only brain structural alteration reported antenatally to date [Weichert et al, 2011;Garavelli et al, 2012;Cottereau et al, 2013]. Moreover, in the second pregnancy of family 1, we detected genital and intestinal defects and thyroglossal duct cysts, which have been described with undefined frequencies in SGBS individuals, but do not appear in the literature as prenatal findings.…”

Section: Discussionmentioning

confidence: 67%

Prenatal diagnosis of Simpson–Golabi–Behmel syndrome

Magini

Palombo

Boito

et al. 2016

American J of Med Genetics Pt A

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Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth syndrome and it is usually diagnosed postnatally, on the basis of phenotype. Prenatal ultrasonography may show fetal alterations, but they are not pathognomonic and most of them are frequently detectable only from the 20th week of gestation. Nevertheless, early diagnosis is important to avoid neonatal complications and make timely and informed decisions about the pregnancy. We report on four fetuses from two unrelated families, in whom the application of whole exome sequencing and array-CGH allowed the identification of GPC3 alterations causing SGBS. The careful follow up of pregnancies and more sophisticated analysis of ultrasound findings led to the identification of early prenatal alterations, which will improve the antenatal diagnosis of SGBS. © 2016 Wiley Periodicals, Inc.

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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: 94%

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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Simpson–Golabi–Behmel syndrome type 1 in a 27‐week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia

Cited by 14 publications

References 31 publications

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

Prenatal diagnosis of Simpson–Golabi–Behmel syndrome

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

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