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ERCC2-related disorder

MedGen UID:
893414
•Concept ID:
CN239291
•
Disease or Syndrome
Synonyms: ERCC2-related condition; ERCC2-related conditions; ERCC2-Related Disorders

Recent clinical studies

Etiology

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy.
Tavasoli AR, Kaki A, Ganji M, Kahani SM, Radmehr F, Mohammadi P, Heidari M, Ashrafi MR, Lewis KS
Mol Genet Genomic Med 2025 Feb;13(2):e70067. doi: 10.1002/mgg3.70067. PMID: 39976384Free PMC Article
DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.
Hozhabrpour A, Mojbafan M, Palizban F, Vahidnezhad F, Talebi S, Amani M, Garshasbi M, Naghavi A, Khalesi R, Mansouri P, Sotoudeh S, Mahmoudi H, Varghaei A, Daneshpazhooh M, Karimi F, Zeinali S, Kalamati E, Uitto J, Youssefian L, Vahidnezhad H
DNA Repair (Amst) 2024 Apr;136:103633. Epub 2024 Feb 29 doi: 10.1016/j.dnarep.2024.103633. PMID: 38422792
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Agolini E, Botta E, Lodi M, Digilio MC, Rinelli M, Bellacchio E, Alesi V, Nardo T, Zambruno G, Orioli D, Alessi I, Boccuto L, Rossi S, Carai A, Colafati GS, Cacchione A, Dallapiccola B, Novelli A, Mastronuzzi A
Clin Genet 2021 Jun;99(6):842-848. Epub 2021 Apr 5 doi: 10.1111/cge.13957. PMID: 33733458

Diagnosis

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy.
Tavasoli AR, Kaki A, Ganji M, Kahani SM, Radmehr F, Mohammadi P, Heidari M, Ashrafi MR, Lewis KS
Mol Genet Genomic Med 2025 Feb;13(2):e70067. doi: 10.1002/mgg3.70067. PMID: 39976384Free PMC Article
DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.
Hozhabrpour A, Mojbafan M, Palizban F, Vahidnezhad F, Talebi S, Amani M, Garshasbi M, Naghavi A, Khalesi R, Mansouri P, Sotoudeh S, Mahmoudi H, Varghaei A, Daneshpazhooh M, Karimi F, Zeinali S, Kalamati E, Uitto J, Youssefian L, Vahidnezhad H
DNA Repair (Amst) 2024 Apr;136:103633. Epub 2024 Feb 29 doi: 10.1016/j.dnarep.2024.103633. PMID: 38422792

Clinical prediction guides

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy.
Tavasoli AR, Kaki A, Ganji M, Kahani SM, Radmehr F, Mohammadi P, Heidari M, Ashrafi MR, Lewis KS
Mol Genet Genomic Med 2025 Feb;13(2):e70067. doi: 10.1002/mgg3.70067. PMID: 39976384Free PMC Article
DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.
Hozhabrpour A, Mojbafan M, Palizban F, Vahidnezhad F, Talebi S, Amani M, Garshasbi M, Naghavi A, Khalesi R, Mansouri P, Sotoudeh S, Mahmoudi H, Varghaei A, Daneshpazhooh M, Karimi F, Zeinali S, Kalamati E, Uitto J, Youssefian L, Vahidnezhad H
DNA Repair (Amst) 2024 Apr;136:103633. Epub 2024 Feb 29 doi: 10.1016/j.dnarep.2024.103633. PMID: 38422792

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