RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy

We see that a multiple methods approach to diagnosis remains necessary in the era of whole genome sequencing. We also observe that reproductive risk genetic counseling can be a motivating factor for further testing along the diagnostic odyssey.

Detalles Bibliográficos
Autores principales: Washington, Camerun, Stolerman, Elliot S., Cooley‐Coleman, Jessica A., Jones, Julie R., Chen‐Deutsch, Xiangwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10082350/
https://www.ncbi.nlm.nih.gov/pubmed/37038535
http://dx.doi.org/10.1002/ccr3.7165
_version_ 1785021302954786816
author Washington, Camerun
Stolerman, Elliot S.
Cooley‐Coleman, Jessica A.
Jones, Julie R.
Chen‐Deutsch, Xiangwen
author_facet Washington, Camerun
Stolerman, Elliot S.
Cooley‐Coleman, Jessica A.
Jones, Julie R.
Chen‐Deutsch, Xiangwen
author_sort Washington, Camerun
collection PubMed
description We see that a multiple methods approach to diagnosis remains necessary in the era of whole genome sequencing. We also observe that reproductive risk genetic counseling can be a motivating factor for further testing along the diagnostic odyssey.
format Online
Article
Text
id pubmed-10082350
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-100823502023-04-09 RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy Washington, Camerun Stolerman, Elliot S. Cooley‐Coleman, Jessica A. Jones, Julie R. Chen‐Deutsch, Xiangwen Clin Case Rep Case Report We see that a multiple methods approach to diagnosis remains necessary in the era of whole genome sequencing. We also observe that reproductive risk genetic counseling can be a motivating factor for further testing along the diagnostic odyssey. John Wiley and Sons Inc. 2023-04-07 /pmc/articles/PMC10082350/ /pubmed/37038535 http://dx.doi.org/10.1002/ccr3.7165 Text en © 2023 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
Washington, Camerun
Stolerman, Elliot S.
Cooley‐Coleman, Jessica A.
Jones, Julie R.
Chen‐Deutsch, Xiangwen
RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
title RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
title_full RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
title_fullStr RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
title_full_unstemmed RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
title_short RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
title_sort rna analysis of intronic variants in the lama2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10082350/
https://www.ncbi.nlm.nih.gov/pubmed/37038535
http://dx.doi.org/10.1002/ccr3.7165
work_keys_str_mv AT washingtoncamerun rnaanalysisofintronicvariantsinthelama2genedetectedbywholegenomesequencingconfirmsararedualdiagnosisofincontinentiapigmentiwithlimbgirdlemusculardystrophy
AT stolermanelliots rnaanalysisofintronicvariantsinthelama2genedetectedbywholegenomesequencingconfirmsararedualdiagnosisofincontinentiapigmentiwithlimbgirdlemusculardystrophy
AT cooleycolemanjessicaa rnaanalysisofintronicvariantsinthelama2genedetectedbywholegenomesequencingconfirmsararedualdiagnosisofincontinentiapigmentiwithlimbgirdlemusculardystrophy
AT jonesjulier rnaanalysisofintronicvariantsinthelama2genedetectedbywholegenomesequencingconfirmsararedualdiagnosisofincontinentiapigmentiwithlimbgirdlemusculardystrophy
AT chendeutschxiangwen rnaanalysisofintronicvariantsinthelama2genedetectedbywholegenomesequencingconfirmsararedualdiagnosisofincontinentiapigmentiwithlimbgirdlemusculardystrophy

Ejemplares similares