NDLI: Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1

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Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1

Content Provider	Scilit
Author	García-Aznar, José María Ramírez, Noelia Uña, David De Santiago, Elisa Monserrat, Lorenzo
Copyright Year	2020
Description	The diagnosis of rare diseases with multisystem manifestations can constitute a difficult process that delays the determination of the underlying cause. Whole exome sequencing (WES) provides a suitable option to examine multiple target genes associated with several disorders that display common features. In this study, we report the case of a female patient suspected of having Sotos syndrome. Screening for the initially selected genes, considering Sotos syndrome and Sotos-like disorders, did not identify any pathogenic variants that could explain the phenotype. The extended analysis, which considered all genes in the exome associated with features consistent with those shown by the studied patient, revealed a novel frameshift variant in the AMER1 gene, responsible for osteopathia striata with cranial sclerosis. WES analysis and an updated revision of previously reported disease-causing mutations, proved useful to reach an accurate diagnosis and guide further examination to identify critical abnormalities.
Related Links	http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1710058.pdf
Ending Page	146
Page Count	8
Starting Page	139
ISSN	21464596
DOI	10.1055/s-0040-1710058
Journal	Journal of Pediatric Genetics
Issue Number	02
Volume Number	10
Language	English
Publisher	Georg Thieme Verlag KG
Publisher Date	2020-04-21
Access Restriction	Open
Subject Keyword	Journal: Journal of Pediatric Genetics Osteopathia Striata with Cranial Sclerosis Whole Exome Sequencing
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical) Pediatrics, Perinatology and Child Health

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