Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
Cases of sudden unexpected infant death (SUID) leave many families devastated, especially in those without an identified cause of death. Here, we describe the case of an apparently healthy 15-day-old infant who died suddenly and unexpectedly. Through whole-exome sequencing, the infant was posthumously found to have 2 mutations in the CLCNKB gene, leading to a molecular diagnosis of Bartter syndrome type III, the likely cause of death. This case illustrates the potential utility of exome sequencing in cases of SUID to suggest a diagnosis, with important implications for families, allowing them to come to closure over the cause of death, informing their future reproductive decisions, and minimizing the risk of recurrence.
1 Columbia University College of Physicians & Surgeons, 630 West 168th Street, New York, NY 10032, USA.
Hector U
HU
Lopez
2 GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Eden
E
Haverfield
3 Department of Pediatrics and Medicine, Columbia University Medical Center, 1150 St Nicholas Avenue, Room 620, New York, NY 10032, USA.
Wendy K
WK
Chung
D001344:Autopsy; D001477:Bartter Syndrome / Q000235:genetics*; D002423:Cause of Death; D018118:Chloride Channels / Q000235:genetics*; D004252:DNA Mutational Analysis; D059472:Exome; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011237:Predictive Value of Tests; D013398:Sudden Infant Death / Q000235:genetics*
C412733:CLCNKB protein, human; D018118:Chloride Channels
Bartter syndrome; CLCNKB; SIDS; SUID; whole-exome sequencing