All of the following cutaneous disorders are associated with defect in Nucleotide Excision Repair(NER) pathway except ____:
Ans. D. Muir-Torre syndrome*Muir-Torre syndrome is a rare autosomal dominant disorder of DNA repair.*M-Torre syndrome occurs due to mutation in one of the DNA mismatch repair genes (MSH-2, MLH-1, and more recently MSH-6).*The disorder is characterized by sebaceous gland neoplasms, keratoacanthomas associated with gastrointestinal and genitourinary malignancies.Important DNA Repair Disorders Associated with Cutaneous FeaturesS. NoDisorderDNA Repair Defect1Xeroderma pigmentosumNucleotide excision repair2Cockayne syndromeNucleotide excision repair3Cerebro-Oculo-facio-skeletal syndromeNucleotide excision repair4UV-sensitive syndromeNucleotide excision repair5TrichothiodystrophyNucleotide excision repair6Rothmund-Thomson syndromeRecombination Q helicase7Bloom syndromeRecombination Q helicase8Werner syndromeRecombination Q helicase9Ataxia telangiectasiaDouble strand break repair10Fanconi anaemiaInterstrand cross-link repair11Muir-Torre syndromeMismatch repair
Xeroderma pigmentosum
Cockayne syndrome
Trichothiodystrophy
Muir-Torre syndrome
Autoimmune Skin Disorders