KEGG DISEASE: Trichothiodystrophy

KEGG

DISEASE: Trichothiodystrophy

Entry

H00866                      Disease

Name

Trichothiodystrophy

Supergrp

Disorders of nucleotide excision repair [DS:H00403]

Description

Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are implicated. Non-photosensitive trichothiodystrophy (TTDN) is characterized by short stature, intellectual impairment, sulfur-deficient brittle hair, and decreased male fertility but not cutaneous photosensitivity. Mutations in MPLKIP, RNF113A, and GTF2E2 have been reported.

Category

Skin disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC21  Genetic defects of hair or hair growth
    H00866  Trichothiodystrophy
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06502  Nucleotide excision repair
   H00866  Trichothiodystrophy

Pathway

Basal transcription factors

Nucleotide excision repair

Network

nt06502 Nucleotide excision repair

Gene

(TTD1) ERCC2 [HSA:2068] [KO:K10844]
(TTD2) ERCC3 [HSA:2071] [KO:K10843]
(TTD3) GTF2H5 [HSA:404672] [KO:K10845]
(TTD4) MPLKIP [HSA:136647] [KO:K24575]
(TTD5) RNF113A [HSA:7737] [KO:K13127]
(TTD6) GTF2E2 [HSA:2961] [KO:K03137]
(TTD7) TARS1 [HSA:6897] [KO:K01868]
(TTD8) AARS1 [HSA:16] [KO:K01872]
(TTD9) MARS1 [HSA:4141] [KO:K01874]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

601675 616390 616395 234050 300953 616943 618546 619691 619692

Reference

PMID:9195225 (ERCC2)

Authors

Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA

Title

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

Journal

Hum Mutat 9:519-25 (1997)
DOI:10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X

Reference

PMID:9012405 (ERCC3)

Authors

Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taieb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A

Title

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

Journal

Am J Hum Genet 60:320-9 (1997)

Reference

PMID:15220921 (GTF2H5)

Authors

Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W

Title

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.

Journal

Nat Genet 36:714-9 (2004)
DOI:10.1038/ng1387

Reference

PMID:15645389 (MPLKIP)

Authors

Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW

Title

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

Journal

Am J Hum Genet 76:510-6 (2005)
DOI:10.1086/428141

Reference

PMID:25612912 (RNF113A)

Authors

Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gecz J, Field M

Title

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

Journal

J Med Genet 52:269-74 (2015)
DOI:10.1136/jmedgenet-2014-102418

Reference

PMID:26996949 (GTF2E2)

Authors

Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M

Title

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Journal

Am J Hum Genet 98:627-42 (2016)
DOI:10.1016/j.ajhg.2016.02.008

Reference

PMID:31374204 (TARS1)

Authors

Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D

Title

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

Journal

Am J Hum Genet 105:434-440 (2019)
DOI:10.1016/j.ajhg.2019.06.017

Reference

PMID:33909043 (AARS1 MARS1)

Authors

Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DEC, Mendes MI, Swagemakers SMA, van der Spek PJ, Salomons GS, Hoeijmakers JHJ, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W

Title

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.

Journal

Hum Mol Genet 30:1711-1720 (2021)
DOI:10.1093/hmg/ddab123

LinkDB

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