Item


The Role of clinical, genetic and segregation evaluation in sudden infant death

Sudden infant death syndrome (SIDS) is the leading cause of death in the first year of life. Several arrhythmogenic genes have been associated with cardiac pathologies leading to infant sudden cardiac death (SCD). Our aim was to take advantage of next generation sequencing (NGS) technology to perform a thorough genetic analysis of a SIDS case. A SIDS case was referred to our institution after negative autopsy. We performed a genetic analysis of 104 SCD-related genes using a custom panel. Confirmed variants in index case were also analyzed in relatives. Clinical evaluation of first-degree family members was performed. Relatives did not show pathology. NGS identified seven variants. Two previously described as pathogenic. Four previously catalogued without clinical significance. The seventh variation was novel. Familial segregation showed that the index case"s mother carried all same genetic variations except one, which was inherited from the father. The sister of the index case carried three variants. We believe that molecular autopsy should be included in current forensic protocols after negative autopsy. In addition to NGS technologies, familial genetic testing should be also performed to clarify potential pathogenic role of new variants and to identify genetic carriers at risk of SC

© Forensic Science International, 2014, vol. 242, p. 9-15

Elsevier

Author: Campuzano Larrea, Oscar
Allegue, Catarina
Sarquella Brugada, Georgia
Coll, Monica
Matés Ramírez, Jesús
Alcalde Masegu, Mireia
Ferrer Costa, Carles
Iglesias, Anna
Brugada Terradellas, Josep
Brugada, Ramon
Date: 2014
Abstract: Sudden infant death syndrome (SIDS) is the leading cause of death in the first year of life. Several arrhythmogenic genes have been associated with cardiac pathologies leading to infant sudden cardiac death (SCD). Our aim was to take advantage of next generation sequencing (NGS) technology to perform a thorough genetic analysis of a SIDS case. A SIDS case was referred to our institution after negative autopsy. We performed a genetic analysis of 104 SCD-related genes using a custom panel. Confirmed variants in index case were also analyzed in relatives. Clinical evaluation of first-degree family members was performed. Relatives did not show pathology. NGS identified seven variants. Two previously described as pathogenic. Four previously catalogued without clinical significance. The seventh variation was novel. Familial segregation showed that the index case"s mother carried all same genetic variations except one, which was inherited from the father. The sister of the index case carried three variants. We believe that molecular autopsy should be included in current forensic protocols after negative autopsy. In addition to NGS technologies, familial genetic testing should be also performed to clarify potential pathogenic role of new variants and to identify genetic carriers at risk of SC
Format: application/pdf
ISSN: 0379-0738
Document access: http://hdl.handle.net/10256/10122
Language: eng
Publisher: Elsevier
Collection: Versió postprint del document publicat a: http://dx.doi.org/10.1016/j.forsciint.2014.06.007
Articles publicats (D-CM)
Is part of: © Forensic Science International, 2014, vol. 242, p. 9-15
Rights: Tots els drets reservats
Subject: Síndrome de la mort sobtada infantil
Sudden infant death syndrome
Infants -- Mort
Children -- Death
Title: The Role of clinical, genetic and segregation evaluation in sudden infant death
Type: info:eu-repo/semantics/article
Repository: DUGiDocs

Subjects

Authors