Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development

Moslehi R, Signore C, Tamura D, Mills JL, DiGiovanna JJ, Tucker MA, Troendle J, Ueda T, Boyle J, Khan SG, Oh K‐S, Goldstein AM, Kraemer KH. Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development. The effects of DNA repair and transcription gene abnormalities in human pre‐natal life have never been studied. Trichothiodystrophy (TTD) is a rare (affected frequency of 10−6) recessive disorder caused by mutations in genes involved in nucleotide excision repair (NER) pathway and in transcription. Based on our novel clinical observations, we conducted a genetic epidemiologic study to investigate gestational outcomes associated with TTD. We compared pregnancies resulting in TTD‐affected offspring (n = 24) with respect to abnormalities during their antenatal and neonatal periods to pregnancies resulting in their unaffected siblings (n = 18), accounting for correlation, and to population reference values. Significantly higher incidence of several severe gestational complications was noted in TTD‐affected pregnancies. Small for gestational age (SGA)