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NOP10 Gene Mutation

MedGen UID:: 1667989
•Concept ID:: C4726634
•: Cell or Molecular Dysfunction

Synonyms:

DKCB1 Gene Mutation; NOLA3 Gene Mutation; NOP10 Ribonucleoprotein Gene Mutation; NOP10P Gene Mutation; Nucleolar Protein Family A, Member 3 Gene Mutation

Definition

A change in the nucleotide sequence of the NOP10 gene. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNOP10 Gene Mutation

Molecular Abnormality
- Molecular Sequence Variation
  - Molecular Genetic Variation
    - Gene Abnormality
      - Telomere Maintenance Gene Mutation
        NOP10 Gene Mutation

Professional guidelines

PubMed

Clinical utility gene card for: dyskeratosis congenita.

Dokal I, Vulliamy T, Mason P, Bessler M
Eur J Hum Genet 2011 Nov;19(11) Epub 2011 May 25 doi: 10.1038/ejhg.2011.90. PMID: 21610750 Free PMC Article

See all (1)

Recent clinical studies

Etiology

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Fidalgo F, Torrezan GT, Sá BCS, Barros BDF, Moredo LF, Valieris R, de Souza SJ, Duprat JP, Krepischi ACV, Carraro DM
PLoS One 2022;17(1):e0262419. Epub 2022 Jan 27 doi: 10.1371/journal.pone.0262419. PMID: 35085295 Free PMC Article

Dysregulation of H/ACA ribonucleoprotein components in chronic lymphocytic leukemia.

Dos Santos PC, Panero J, Stanganelli C, Palau Nagore V, Stella F, Bezares R, Slavutsky I
PLoS One 2017;12(6):e0179883. Epub 2017 Jun 30 doi: 10.1371/journal.pone.0179883. PMID: 28666010 Free PMC Article

Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study.

Mehta S, Krishnamohan M, Gulati S, Sharmat N, Vashishtha P, Singh I
J Assoc Physicians India 2014 Oct;62(10):13-7. PMID: 25906515

The genetics and clinical manifestations of telomere biology disorders.

Savage SA, Bertuch AA
Genet Med 2010 Dec;12(12):753-64. doi: 10.1097/GIM.0b013e3181f415b5. PMID: 21189492 Free PMC Article

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Vulliamy TJ, Dokal I
Biochimie 2008 Jan;90(1):122-30. Epub 2007 Jul 31 doi: 10.1016/j.biochi.2007.07.017. PMID: 17825470

See all (9)

Diagnosis

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia.

Kropski JA, Mitchell DB, Markin C, Polosukhin VV, Choi L, Johnson JE, Lawson WE, Phillips JA 3rd, Cogan JD, Blackwell TS, Loyd JE
Chest 2014 Jul;146(1):e1-e7. doi: 10.1378/chest.13-2224. PMID: 24504062 Free PMC Article

Clinical utility gene card for: dyskeratosis congenita.

Dokal I, Vulliamy T, Mason P, Bessler M
Eur J Hum Genet 2011 Nov;19(11) Epub 2011 May 25 doi: 10.1038/ejhg.2011.90. PMID: 21610750 Free PMC Article

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP
Am J Hum Genet 2008 Feb;82(2):501-9. Epub 2008 Jan 31 doi: 10.1016/j.ajhg.2007.10.004. PMID: 18252230 Free PMC Article

Telomere maintenance and human bone marrow failure.

Calado RT, Young NS
Blood 2008 May 1;111(9):4446-55. Epub 2008 Jan 31 doi: 10.1182/blood-2007-08-019729. PMID: 18239083 Free PMC Article

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Vulliamy TJ, Dokal I
Biochimie 2008 Jan;90(1):122-30. Epub 2007 Jul 31 doi: 10.1016/j.biochi.2007.07.017. PMID: 17825470

See all (8)

Therapy

Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.

Kirwan M, Beswick R, Vulliamy T, Nathwani AC, Walne AJ, Casimir C, Dokal I
Br J Haematol 2009 Mar;144(5):771-81. Epub 2008 Nov 20 doi: 10.1111/j.1365-2141.2008.07516.x. PMID: 19036115

See all (1)

Prognosis

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Long-Term Follow-Up of a Case with Dyskeratosis Congenita Caused by NHP2-V126M/X154R Mutation: Genotype-Phenotype Association.

Erdem M, Tüfekçi Ö, Yılmaz Ş, Alacacıoğlu İ, Ören H
Acta Haematol 2019;141(1):28-31. Epub 2018 Nov 23 doi: 10.1159/000494421. PMID: 30472699

Dysregulation of H/ACA ribonucleoprotein components in chronic lymphocytic leukemia.

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia.

See all (4)

Clinical prediction guides

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Dysregulation of H/ACA ribonucleoprotein components in chronic lymphocytic leukemia.

Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study.

Mehta S, Krishnamohan M, Gulati S, Sharmat N, Vashishtha P, Singh I
J Assoc Physicians India 2014 Oct;62(10):13-7. PMID: 25906515

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia.

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I
Proc Natl Acad Sci U S A 2008 Jun 10;105(23):8073-8. Epub 2008 Jun 3 doi: 10.1073/pnas.0800042105. PMID: 18523010 Free PMC Article

See all (5)

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NOP10 Gene Mutation

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Practice guidelines

Related information

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