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Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs

INTRODUCTION: CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exon 30 and the 5′ portion of exon 31 induce Menke‐Hennekam syndrome....

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Autores principales: Cogan, Guillaume, Bourgon, Nicolas, Borghese, Roxana, Julien, Emmanuel, Jaquette, Aurélia, Stos, Bertrand, Achaiaa, Amale, Chuon, Sophie, Nitschke, Patrick, Fourrage, Cécile, Stirnemann, Julien, Boutaud, Lucile, Attie‐Bitach, Tania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496051/
https://www.ncbi.nlm.nih.gov/pubmed/37353886
http://dx.doi.org/10.1002/mgg3.2219
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author Cogan, Guillaume
Bourgon, Nicolas
Borghese, Roxana
Julien, Emmanuel
Jaquette, Aurélia
Stos, Bertrand
Achaiaa, Amale
Chuon, Sophie
Nitschke, Patrick
Fourrage, Cécile
Stirnemann, Julien
Boutaud, Lucile
Attie‐Bitach, Tania
author_facet Cogan, Guillaume
Bourgon, Nicolas
Borghese, Roxana
Julien, Emmanuel
Jaquette, Aurélia
Stos, Bertrand
Achaiaa, Amale
Chuon, Sophie
Nitschke, Patrick
Fourrage, Cécile
Stirnemann, Julien
Boutaud, Lucile
Attie‐Bitach, Tania
author_sort Cogan, Guillaume
collection PubMed
description INTRODUCTION: CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exon 30 and the 5′ portion of exon 31 induce Menke‐Hennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis. To date, all diagnoses were made postnatally. METHOD AND CASE REPORT: Trio‐whole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28 weeks of gestation (WG). RESULTS: WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke‐Hennekam syndrome. Termination of pregnancy was performed at 32 WG. We further reviewed the prenatal signs of Menke‐Hennekam syndrome already reported. Among the 35 patients reported and diagnosed postnatally up to this day, 15 presented recognizable prenatal signs, the most frequent being intra‐uterine growth retardation, brain, and cardiovascular anomalies. CONCLUSION: Menke‐Hennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C>T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagnosis of Menke‐Hennekam syndrome is only possible by molecular investigation. Moreover, this case report and review reinforce the importance of performing prenatal WES when unspecific signs are present on imaging.
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spelling pubmed-104960512023-09-13 Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs Cogan, Guillaume Bourgon, Nicolas Borghese, Roxana Julien, Emmanuel Jaquette, Aurélia Stos, Bertrand Achaiaa, Amale Chuon, Sophie Nitschke, Patrick Fourrage, Cécile Stirnemann, Julien Boutaud, Lucile Attie‐Bitach, Tania Mol Genet Genomic Med Review Article INTRODUCTION: CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exon 30 and the 5′ portion of exon 31 induce Menke‐Hennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis. To date, all diagnoses were made postnatally. METHOD AND CASE REPORT: Trio‐whole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28 weeks of gestation (WG). RESULTS: WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke‐Hennekam syndrome. Termination of pregnancy was performed at 32 WG. We further reviewed the prenatal signs of Menke‐Hennekam syndrome already reported. Among the 35 patients reported and diagnosed postnatally up to this day, 15 presented recognizable prenatal signs, the most frequent being intra‐uterine growth retardation, brain, and cardiovascular anomalies. CONCLUSION: Menke‐Hennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C>T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagnosis of Menke‐Hennekam syndrome is only possible by molecular investigation. Moreover, this case report and review reinforce the importance of performing prenatal WES when unspecific signs are present on imaging. John Wiley and Sons Inc. 2023-06-23 /pmc/articles/PMC10496051/ /pubmed/37353886 http://dx.doi.org/10.1002/mgg3.2219 Text en © 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Review Article
Cogan, Guillaume
Bourgon, Nicolas
Borghese, Roxana
Julien, Emmanuel
Jaquette, Aurélia
Stos, Bertrand
Achaiaa, Amale
Chuon, Sophie
Nitschke, Patrick
Fourrage, Cécile
Stirnemann, Julien
Boutaud, Lucile
Attie‐Bitach, Tania
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
title Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
title_full Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
title_fullStr Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
title_full_unstemmed Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
title_short Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
title_sort diagnosis of menke‐hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496051/
https://www.ncbi.nlm.nih.gov/pubmed/37353886
http://dx.doi.org/10.1002/mgg3.2219
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