Genetic Disorders Associated with Advanced Paternal Age - Tuberous Sclerosis One of Them

It is not parental germ line mutations it is paternal germ line mutations that cause autism. The mother's fathers age or the fathers age.



SYNDROMES WITH REPRODUCTIVE DYSFUNCTIONPaul J. Turek M.D.Associate Professor, Departments of Urology, Obstetrics, Gynecologyand Reproductive Sciences, University of California San FranciscoTable 1. Selected Genetic Disorders Associated with Advanced Paternal AgeAchondroplasias AniridiaApert syndrome Bilateral RetinoblastomaCrouzon syndrome Fibrodysplaisa OssificansHemophilia A Lesch Nyhan syndromeMarfan syndrome NeurofibromatosisOculodentodigital syndrome Polycystic kidney diseasePolyposis coli ProgeriaTreacher-Collins syndrome Tuberous sclerosisWardenburg syndromeFormal risk estimates for the contribution that advanced paternal age makes to autosomaldominant mutations have been calculated. Friedman estimated that in men <29>45 (22). The risk for a father over 40 years old tohave a child with an autosomal dominant mutation equals the risk of Down syndrome for a childwhose mother is 35-40 years old. These risk estimates were corroborated in a study by Lian et alin which all kinds of birth defects (anatomic and genetic) were assessed against paternal ageusing data over 12 years from Atlanta (23). They found no increase in chromosomal disorderswith advanced paternal age, but estimated that fathers over the age of 40 years had a 20% greaterincidence of having a baby born with a serious birth defect. More recently, an indictingrelationship between advanced paternal age and offspring with schizophrenia has becomeapparent (24).