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.

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Bibliographic Details
Published inClinical case reports Vol. 11; no. 4; pp. e7165 - n/a
Main Authors Washington, Camerun, Stolerman, Elliot S., Cooley‐Coleman, Jessica A., Jones, Julie R., Chen‐Deutsch, Xiangwen
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.04.2023
John Wiley and Sons Inc
Wiley
Subjects
Age
Cardiomyopathy
Case Report
Convulsions & seizures
Data analysis
dual diagnosis
Families & family life
Genetic counseling
Genetics
genome sequencing
Genomes
incontinentia pigmenti
Laboratories
LAMA2
Muscular dystrophy
RNA analysis
Software
genome sequencing
muscular dystrophy
incontinentia pigmenti
dual diagnosis
LAMA2
RNA analysis
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Summary: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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.7165