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Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.
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Department of Dermatology, La Fe University and Polytechnic Hospital, Valencia, Spain.
Trichothiodystrophy exhibits a broad clinical spectrum, and cases with an uncommon phenotype can go unnoticed, complicating the diagnosis. We present the second case of type 9 non-photosensitive trichothiodystrophy caused by a homozygous variant in the MARS1 gene. It presented with atypical features, including long hair, normal hair density of eyebrows and eyelashes, and precocious puberty.
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Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, Medical University of Warsaw, Warsaw, Poland.
Article Synopsis
- Cartilage hair hypoplasia (CHH) is a rare genetic disorder that can cause anemia, but there hasn't been a thorough review on this issue until now.
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TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Hum Mutat
December 2022
Istituto di Genetica Molecolare "Luigi Luca Cavalli-Sforza" (IGM) CNR, Pavia, Italy.
Trichothiodystrophy (TTD) is a rare hereditary disease whose prominent feature is brittle hair. Additional clinical signs are physical and neurodevelopmental abnormalities and in about half of the cases hypersensitivity to UV radiation. The photosensitive form of TTD (PS-TTD) is most commonly caused by mutations in the ERCC2/XPD gene encoding a subunit of the transcription/DNA repair complex TFIIH.
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Muscle Nerve
February 2023
Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.
Repair of genomic DNA is a fundamental housekeeping process that quietly maintains the health of our genomes. The consequences of a genetic defect affecting a component of this delicate mechanism are quite harmful, characterized by a cascade of premature aging that injures a variety of organs, including the nervous system. One part of the nervous system that is impaired in certain DNA repair disorders is the peripheral nerve.
View Article and Find Full Text PDFDebilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
Am J Med Genet A
December 2022
DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder of DNA repair and transcription with developmental delay and abnormalities in brain, eye, skin, nervous, and musculoskeletal systems. We followed a cohort of 37 patients with TTD at the National Institutes of Health (NIH) from 2001 to 2019 with a median age at last observation of 12 years (range 2-36). Some children with TTD developed rapidly debilitating hip degeneration (DHD): a distinctive pattern of hip pain, inability to walk, and avascular necrosis on imaging.
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