A new variant of MYCN gene as a cause of Feingold syndrome

Feingold syndrome 1 (FS1) is a rare disorder that is inherited in autosomal dominant manner with full penetrance but with variable expressivity. The most common phenotypical features described are finger and toe anomalies, microcephaly, short stature, and intestinal atresia. Dysmorphic features, int...

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Autores principales: Zeka, Naim, Bejiqi, Ramush, Gerguri, Abdurrahim, Zogaj, Leonore, Jashari, Haki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9125397/
https://www.ncbi.nlm.nih.gov/pubmed/35620261
http://dx.doi.org/10.1002/ccr3.5886
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author Zeka, Naim
Bejiqi, Ramush
Gerguri, Abdurrahim
Zogaj, Leonore
Jashari, Haki
author_facet Zeka, Naim
Bejiqi, Ramush
Gerguri, Abdurrahim
Zogaj, Leonore
Jashari, Haki
author_sort Zeka, Naim
collection PubMed
description Feingold syndrome 1 (FS1) is a rare disorder that is inherited in autosomal dominant manner with full penetrance but with variable expressivity. The most common phenotypical features described are finger and toe anomalies, microcephaly, short stature, and intestinal atresia. Dysmorphic features, intellectual disability and other organ anomalies are less frequently described. Here, we present a 7‐year‐old boy with severe intellectual disability who is diagnosed with FS1 syndrome caused by a new heterozygous variant of MYCN gene
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spelling pubmed-91253972022-05-25 A new variant of MYCN gene as a cause of Feingold syndrome Zeka, Naim Bejiqi, Ramush Gerguri, Abdurrahim Zogaj, Leonore Jashari, Haki Clin Case Rep Case Reports Feingold syndrome 1 (FS1) is a rare disorder that is inherited in autosomal dominant manner with full penetrance but with variable expressivity. The most common phenotypical features described are finger and toe anomalies, microcephaly, short stature, and intestinal atresia. Dysmorphic features, intellectual disability and other organ anomalies are less frequently described. Here, we present a 7‐year‐old boy with severe intellectual disability who is diagnosed with FS1 syndrome caused by a new heterozygous variant of MYCN gene John Wiley and Sons Inc. 2022-05-23 /pmc/articles/PMC9125397/ /pubmed/35620261 http://dx.doi.org/10.1002/ccr3.5886 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. 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 Case Reports
Zeka, Naim
Bejiqi, Ramush
Gerguri, Abdurrahim
Zogaj, Leonore
Jashari, Haki
A new variant of MYCN gene as a cause of Feingold syndrome
title A new variant of MYCN gene as a cause of Feingold syndrome
title_full A new variant of MYCN gene as a cause of Feingold syndrome
title_fullStr A new variant of MYCN gene as a cause of Feingold syndrome
title_full_unstemmed A new variant of MYCN gene as a cause of Feingold syndrome
title_short A new variant of MYCN gene as a cause of Feingold syndrome
title_sort new variant of mycn gene as a cause of feingold syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9125397/
https://www.ncbi.nlm.nih.gov/pubmed/35620261
http://dx.doi.org/10.1002/ccr3.5886
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