Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality

This report describes two patients with INPPL1‐ related skeletal dysplasia diagnosed prenatally. A literature review is conducted to find out if high‐lethality is associated with particular pathogenic variants in INPPL1 gene. Prediction of lethality in the prenatal setting has an impact on perinatal...

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Autores principales: Abumansour, Iman Sabri, Iskandarani, Radiah Mahmoud, Edrees, Alaa, Javed, Farrukh, Taher, Fadwah, Hakeem, Ghaidaa Farouk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162397/
https://www.ncbi.nlm.nih.gov/pubmed/34094554
http://dx.doi.org/10.1002/ccr3.4079
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author Abumansour, Iman Sabri
Iskandarani, Radiah Mahmoud
Edrees, Alaa
Javed, Farrukh
Taher, Fadwah
Hakeem, Ghaidaa Farouk
author_facet Abumansour, Iman Sabri
Iskandarani, Radiah Mahmoud
Edrees, Alaa
Javed, Farrukh
Taher, Fadwah
Hakeem, Ghaidaa Farouk
author_sort Abumansour, Iman Sabri
collection PubMed
description This report describes two patients with INPPL1‐ related skeletal dysplasia diagnosed prenatally. A literature review is conducted to find out if high‐lethality is associated with particular pathogenic variants in INPPL1 gene. Prediction of lethality in the prenatal setting has an impact on perinatal management. Some frameshift variants in INPLL1 gene are uniquely observed in lethal cases; however, more patients are needed to confirm the correlation.
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spelling pubmed-81623972021-06-03 Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality Abumansour, Iman Sabri Iskandarani, Radiah Mahmoud Edrees, Alaa Javed, Farrukh Taher, Fadwah Hakeem, Ghaidaa Farouk Clin Case Rep Case Report This report describes two patients with INPPL1‐ related skeletal dysplasia diagnosed prenatally. A literature review is conducted to find out if high‐lethality is associated with particular pathogenic variants in INPPL1 gene. Prediction of lethality in the prenatal setting has an impact on perinatal management. Some frameshift variants in INPLL1 gene are uniquely observed in lethal cases; however, more patients are needed to confirm the correlation. John Wiley and Sons Inc. 2021-05-28 /pmc/articles/PMC8162397/ /pubmed/34094554 http://dx.doi.org/10.1002/ccr3.4079 Text en © 2021 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 Report
Abumansour, Iman Sabri
Iskandarani, Radiah Mahmoud
Edrees, Alaa
Javed, Farrukh
Taher, Fadwah
Hakeem, Ghaidaa Farouk
Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality
title Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality
title_full Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality
title_fullStr Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality
title_full_unstemmed Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality
title_short Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality
title_sort prenatal‐onset inppl1‐related skeletal dysplasia in two unrelated families: diagnosis and prediction of lethality
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162397/
https://www.ncbi.nlm.nih.gov/pubmed/34094554
http://dx.doi.org/10.1002/ccr3.4079
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