New clinico‐genetic classification of trichothiodystrophy

@article{MoricePicard2009NewCC,
  title={New clinico‐genetic classification of trichothiodystrophy},
  author={Fanny Morice‐Picard and Muriel Cario-Andr{\'e} and Hamid Reza Rezvani and Didier Lacombe and Alain Sarasin and Alain Ta{\"i}eb},
  journal={American Journal of Medical Genetics Part A},
  year={2009},
  volume={149A}
}
Trichothiodystrophy (TTD) is a congenital hair dysplasia with autosomal recessive transmission. Cross banding pattern under polarized light plus trichoschisis and a low sulfur content of hair shafts define the disorder, which is associated with variable and neuroectodermal symptoms. So‐called photosensitive forms of TTD (with low level of in vitro UV‐induced DNA repair, not constantly associated with marked clinical photosensitivity) are caused by mutations in genes encoding subunits of the… 
Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TLDR
TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations; a multisystem study should be performed mandatorily in patients diagnosed with TTD.
Trichothiodystrophy in a Child with Occult Learning Disorder
TLDR
This case report highlights the importance of early diagnosis of occult learning disorder in young children with TTD and the need for early assessment and involvement of multidisciplinary team to target the child's educational needs.
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype–phenotype relationship
TLDR
Clinical and laboratory findings of a female patient with a homozygous mutation, R722W, in the XPD gene are presented, showing patients who carry R7 22W mutation have a more severe TTD phenotype than other types of mutations.
Xeroderma pigmentosum
Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy
TLDR
Patients’ hair examination under polarizing microscopy revealed an image resembling the tiger tail binding, which was suggestive of trichothiodystrophy, and genetic testing confirmed the diagnosis and revealed a homozygous mutation in exon 5 of the ERCC2 gene (c.335G > A p.R112H).
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 105 REFERENCES
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.
TLDR
The first transgenic mouse models for NER deficiencies have been generated and will provide important tools to understand the complex relationships between defects in DNA repair, low-sulfur hair shaft disorders, and the genotype-phenotype correlates for this constellation of inherited disorders, including the lack of predisposition to cancer in patients with TTD.
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
TLDR
Observations, which give the first indication that TTD is associated with repair defects behaving differently in the functional test of complementation, suggest some kind of causal connection between defective excision-repair factors and clinical features diagnostic for TTD.
Diagnosis of trichothiodystrophy in 2 siblings.
TLDR
The present cases show that the correct diagnosis of TTD in practice can be impeded for many years because of the heterogeneous clinical appearance and that the determination of the sulfur content in hair is a simple but indispensable method.
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.
TLDR
Molecular analysis of the defects in ERCC2 in clinically distinct patients with XP,XP/Cockayne's syndrome, and TTD may provide insight into the molecular mechanisms of these genetically related but clinically distinct disorders.
[Trichothiodystrophy: a morphological and biochemical study].
TLDR
The results do not support the generally accepted hypothesis of a defective transport mechanism in the hair follicle, and it is important to lead further research in this field in order to elucidate the metabolic pathways underlying these rare clinical syndromes.
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair
TLDR
M measurement of DNA repair by unscheduled DNA synthesis provided unambiguous evidence of defective DNA repair in the fetal cells, and is therefore a suitable prenatal diagnostic test for those TTD families in which a DNA repair defect has been identified.
Genotype–phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene
TLDR
Compared to the previously described TTD compound heterozygotes for the Arg722Trp change, Patient TTD24PV's cells show similar level of TFIIH but increased repair activity, suggesting that even low amounts of normal XPD subunits are able to partially rescue the functionality ofTFIIH complexes.
[Trichothiodystrophy and congenital heart disease in two sisters].
TLDR
The low incidence of both conditions suggests that these abnormalities are linked etiologically rather than by chance, and could lead to combined phenotype as observed in the family.
...
1
2
3
4
5
...