Akademik Veri Yönetim Sistemi
50th European Society of Human Genetics Conference, Kobenhavn, Danimarka, 27 - 30 Mayıs 2017, ss.394
Introduction: Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, recognizable by sulphur-deficient brittle hair with typical tiger-tail pattern on polarizing microscopy. TTD patients also display variable neuroectodermal features including cogntitive deficit, ichthyosis, photosensitivity, ocular findings, infections, and decreased fertility. Approximately half of TTD patients exhibit photosensitivity. Non-photosensitive TTD (TTDN) is caused by mutations in MPLKIP and GTF2E2. An X-linked form was described in a family with two male affecteds with RNF113A mutations. We here present the clinical and molecular findings of seven patients from five unrelated families with non-photosensitive TTD, including two novel mutations in MPLKIP. Materials and Methods: Sanger sequencing of MPLKIP was performed in seven clinically diagnosed TTDN patients from five unrelated families, consulted in the Medical Genetics Department of Istanbul Medical Faculty between 2008–2016. Their clinical and molecular findings were reviewed. Results: All our patients had characteristics of TTDN including the tiger-tail hair pattern, dysmorphic findings, cognitive deficit or developmental delay, short stature, ichthyosis and hypogonadism. Notably, four patients displayed hipo/anhydrosis and temperature intolerance, indicative for ectodermal involvement, one had hypoplasia of corpus callosum, and one had a single central incisor. Previously reported c.505dupA (p. T169Nfs*75) was detected in one patient, novel c.85G>T (p.G29X) in three families, and novel frameshift c.61delT (p.W21Gfs*132) in one family. Conclusion: This study adds to the clinical and mutational spectrum of TTDN, with two novel mutations, the previously unreported finding of single central incisor, and confirmation of callosal abnormalities as a finding of TTDN.