Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother

We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic GNPTAB variant. M...

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Autores principales: Wood, Kirsten A., Zambrano, Regina M., Cheek, Bradley J., Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C., Lacassie, Yves
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378852/
https://www.ncbi.nlm.nih.gov/pubmed/28396763
http://dx.doi.org/10.1002/ccr3.835
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author Wood, Kirsten A.
Zambrano, Regina M.
Cheek, Bradley J.
Arcement, Christopher
Haymon, Marie
Steinkampf, Jessica
Sampath, Srirangan
Hyland, James C.
Lacassie, Yves
author_facet Wood, Kirsten A.
Zambrano, Regina M.
Cheek, Bradley J.
Arcement, Christopher
Haymon, Marie
Steinkampf, Jessica
Sampath, Srirangan
Hyland, James C.
Lacassie, Yves
author_sort Wood, Kirsten A.
collection PubMed
description We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant.
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spelling pubmed-53788522017-04-10 Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother Wood, Kirsten A. Zambrano, Regina M. Cheek, Bradley J. Arcement, Christopher Haymon, Marie Steinkampf, Jessica Sampath, Srirangan Hyland, James C. Lacassie, Yves Clin Case Rep Case Reports We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant. John Wiley and Sons Inc. 2017-02-24 /pmc/articles/PMC5378852/ /pubmed/28396763 http://dx.doi.org/10.1002/ccr3.835 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://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
Wood, Kirsten A.
Zambrano, Regina M.
Cheek, Bradley J.
Arcement, Christopher
Haymon, Marie
Steinkampf, Jessica
Sampath, Srirangan
Hyland, James C.
Lacassie, Yves
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
title Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
title_full Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
title_fullStr Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
title_full_unstemmed Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
title_short Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
title_sort neonatal mucolipidosis type ii alpha/beta due to compound heterozygosity for a known and novel gnptab mutation, and a concomitant heterozygous change in serpinf1 inherited from the mother
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378852/
https://www.ncbi.nlm.nih.gov/pubmed/28396763
http://dx.doi.org/10.1002/ccr3.835
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