J Pediatr Genet 2021; 10(02): 139-146
DOI: 10.1055/s-0040-1710058
Case Report

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

José María García-Aznar
1   Health in Code S. L., A Coruña, Spain
,
Noelia Ramírez
2   Pediatric Division, Hospital Virgen de Altagracia, Manzanares, Spain
,
David De Uña
1   Health in Code S. L., A Coruña, Spain
,
Elisa Santiago
1   Health in Code S. L., A Coruña, Spain
,
Lorenzo Monserrat
1   Health in Code S. L., A Coruña, Spain
› Author Affiliations
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Abstract

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.

Ethical Approval

This study was approved by the Ethics Committee of Research and Drugs from the hospital institution (Virgen de Altagracia Hospital, Manzanares, Spain).


Supplementary Material



Publication History

Received: 03 December 2019

Accepted: 17 March 2020

Article published online:
21 April 2020

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