Sudden infant death with dysgenesis of the testes syndrome

Definition:

Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is an autosomal recessive syndrome that was first identified in an Old Order Amish community. Infants with SIDDT appear normal at birth, develop signs of visceral and autonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. SIDDT was identified to be caused by loss of function mutations in the TSPYL1 gene.

References:

[1]. Erik G Puffenberger, et al. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci U S A. 2004 Aug 10;101(32):11689-94. [Content Brief]

[2]. Robert Hering, et al. Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. Genet Med. 2006 Jan;8(1):55-8. [Content Brief]

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