Sudden infant death with dysgenesis of the testes syndrome

Disorder
OMIM #:	#608800 (Click to access OMIM database)
Disorder:	Sudden infant death with dysgenesis of the testes syndrome
Also known as:	SIDDT
Clinical
Phenotype:	Infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age due to sudden cardiorespiratory arrest; sudden death, bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, abnormal cardiorespiratory patterns during sleep Affected Males had; disorder of sexual differentiation, partial development of the penile shaft, testicular dysgenesis Females sexual development is normal
Seen In:	Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite
Remarks:	Autosomal recessive
Mutations
1 Amish
Gene:	TSPYL1
Base Change:	c.457dupG
Amino Acid Change:	p.Glu153Glyfs*17
Last updated:	2022-11-13

References
Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, and Stephan DA. (2004) 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 101(32): 11689-11694. PubMed ID: 15273283

References

Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, and Stephan DA. (2004) 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 101(32): 11689-11694.
PubMed ID: 15273283

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