We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress
Sign In
Advertise with Us
Abbott Diagnostics- Hematology Division

Download Mobile App




Events

ATTENTION: Due to the COVID-19 PANDEMIC, many events are being rescheduled for a later date, converted into virtual venues, or altogether cancelled. Please check with the event organizer or website prior to planning for any forthcoming event.
21 Jun 2021 - 24 Jun 2021

New Genetic Factors Involved in Sudden Unexpected Death in Children

By LabMedica International staff writers
Posted on 29 Apr 2021
Print article
Image: New genetic factors involved in Sudden Unexpected Death in Pediatrics (SUDP) have been revealed by combining exome sequencing analysis with detailed phenotyping (Photo courtesy of Boston Children`s Hospital)
Image: New genetic factors involved in Sudden Unexpected Death in Pediatrics (SUDP) have been revealed by combining exome sequencing analysis with detailed phenotyping (Photo courtesy of Boston Children`s Hospital)
About 10% of deaths in infants and children occur suddenly and have no apparent cause. Sudden Unexpected Death in Pediatrics (SUDP) encompasses several related phenomena, including Sudden Infant Death Syndrome (SIDS), Sudden Unexplained Death in Childhood (SUDC), and Sudden Unexpected Infant Death (SUID).

The most widely accepted explanation for these unexplained deaths, is that children with an intrinsic, or genetic, predisposition experience some sort of extrinsic risk, such as soft bedding or a certain sleep position, during a critical period of their development. A new study has found several genes with functions in neurological disease or systemic/syndromic conditions that had not previously been implicated in the SUDP.

Medical Scientists at the Boston Children's Hospital (Boston, MA, USA) and their colleagues surveyed a total of 352 SUDP cases, including 73 with parental samples. The age of death in these children ranged from one day to 11 years, with an average of six months, and the team obtained detailed phenotypic descriptions for them. The investigators conducted exome sequencing and analyzed the data for rare damaging variants in genes involved in neurological, cardiac, and systemic or syndromic disease mechanisms, a list of 294 potential SUDP genes. They classified variants as pathogenic, likely pathogenic, and variants of uncertain significance (VUS) and introduced an additional category, called VUS-favor pathogenic (VUS-FP).

In a proband-only analysis, they identified 109 rare damaging variants in 98 probands, or 28% of which 12 were classified as pathogenic or likely pathogenic and 17 as VUS-FP. This was a higher burden of such variants than in healthy controls. In addition, an analysis of the parent-proband exome data uncovered 51 de novo variants, of which eight were classified as pathogenic/likely pathogenic or VUS-FP, as well as 13 X-linked maternally inherited variants. A burden analysis found that SUDP trios had almost three times more rare damaging de novo variants than controls, suggesting that these variants play a causal role.

Overall, the scientists identified 38 rare damaging variants, 16 pathogenic or likely pathogenic and 22 VUS-FP variants in the SUDP cases, accounting for 11% of all cases. Of those, 14 were in neurological, 18 in cardiac, and six in systemic/syndromic disease genes. Variants in cardiac disease genes all occurred in children who died within their first year of life.

The authors concluded that their results suggest that genetic factors play an important role in SUDP. The findings can provide bereaved parents with an explanation of why their child died, help identify at-risk family members, and lead to counseling about recurrence risk. The study was presented at the American College of Medical Genetics and Genomics annual clinical meeting held virtually on 13-16 April, 2021.

Related Links:
Boston Children's Hospital

Gold Supplier
ADAMTS13 Activity Assay
HemosIL ACUSTAR ADAMTS13 Activity Assay
New
Multiplex Genetic Analyzer
MassARRAY Dx Analyzer
New
Automated Cell Counter
LUNA-FX7
New
COVID-19 Antigen Rapid Test
COVID-19 Antigen RT (NP Swab)

Print article
BIOHIT  Healthcare OY

Channels

Clinical Chem.

view channel
Image: Blood test for  plasma aldosterone concentration was used to screen For hyperaldosteronism in hypertensive men (Photo courtesy of  VisitHealth Ltd)

Urinary Sodium/Potassium Ratio Screens for Hyperaldosteronism in Hypertensive Men

Among individuals with hypertension, the prevalence of secondary hypertension has been reported to be around 10%. More than half of individuals with secondary hypertension have associated hyperaldosteronism.... Read more

Industry

view channel
Illustration

Global Clinical Chemistry Analyzers Market to Reach USD 15.97 Billion by 2028

The global clinical chemistry analyzers market is projected to grow at a CAGR of 4.25% from USD 11.45 billion in 2020 to USD 15.97 billion by 2028, driven by growth in technology, rising global population,... Read more
Copyright © 2000-2021 Globetech Media. All rights reserved.