© 2017, GENASSIST, Inc.     

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Timothy Syndrome: Is usually due to a new mutation in the CACNA1C gene on chromosome 12p13.

Prevalence is not known but is believed to be rare, approximately 1 in 1,000,000 births.

Timothy Syndrome may include:

  • Heart defects, heart arrythmia
  • Syndactyly
  • Developmental delay
  • Autism and/or autism spectrum disorder

The CACNA1C gene is responsible for formation of a protein involved in calcium movement into heart cells and results in prolonged QT intervals known as Long QT Syndrome (LQTS).

Long QT Syndrome (LQTS) results in an irregular heart rhythm often resulting in:

  • Loss of consciousness
  • Cardiac arrest
  • May result in premature death in early childhood

Some patients may survive to adulthood.

Several other syndromes result in prolonged QT interval.

Rarely, similar findings were found in a few individuals with a contiguous gene syndrome with a:

  • A deletion in the ABCC8 gene on chromosome 11p15
  • A mutation in the KCNQ1 gene on chromosome 11p15
  • A mutation in the hERG gene on chromosome 7q35

[*A recent study, that is ongoing, has suggested a possible relationship between maternal age (35 years or older) and/or paternal age (greater than 40 years) and autism and/or autism spectrum disorder(s) in a child. Reference: Israel & Mt. Sinai, NY. ]

*Some recent studies have suggested risk may be as high as 1:50 to 1:80.