Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.

Hector U Lopez, Eden Haverfield, Wendy K Chung

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2015 Jul-Aug

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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.

Citation

Hector U Lopez, Eden Haverfield, Wendy K Chung. Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2015 Jul-Aug;18(4):324-6