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Autosomal recessive dyskeratosis congenita 4(DKCB4)

MedGen UID:
462794
•Concept ID:
C3151444
•
Disease or Syndrome
Synonyms: DKCB4; DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4
 
Monarch Initiative: MONDO:0027353
OMIM®: 187270; 613989

Definition

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33. [from MONDO]

Recent clinical studies

Etiology

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N
Hepatology 2023 Dec 1;78(6):1777-1787. Epub 2023 May 16 doi: 10.1097/HEP.0000000000000461. PMID: 37184208Free PMC Article
Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.
Çepni E, Satkın NB, Moheb LA, Rocha ME, Kayserili H
Am J Med Genet A 2022 Apr;188(4):1226-1232. Epub 2021 Dec 9 doi: 10.1002/ajmg.a.62602. PMID: 34890115
Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free 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

Diagnosis

Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.
Çepni E, Satkın NB, Moheb LA, Rocha ME, Kayserili H
Am J Med Genet A 2022 Apr;188(4):1226-1232. Epub 2021 Dec 9 doi: 10.1002/ajmg.a.62602. PMID: 34890115
Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free 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
Dyskeratosis congenita.
Handley TP, McCaul JA, Ogden GR
Oral Oncol 2006 Apr;42(4):331-6. Epub 2005 Sep 2 doi: 10.1016/j.oraloncology.2005.06.007. PMID: 16140563
Dyskeratosis congenita: its link to telomerase and aplastic anaemia.
Dokal I, Vulliamy T
Blood Rev 2003 Dec;17(4):217-25. doi: 10.1016/s0268-960x(03)00020-1. PMID: 14556776

Therapy

Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article

Prognosis

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N
Hepatology 2023 Dec 1;78(6):1777-1787. Epub 2023 May 16 doi: 10.1097/HEP.0000000000000461. PMID: 37184208Free PMC Article
Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita.
Güngör T, Corbacioglu S, Storb R, Seger RA
Bone Marrow Transplant 2003 Mar;31(5):407-10. doi: 10.1038/sj.bmt.1703844. PMID: 12634734

Clinical prediction guides

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N
Hepatology 2023 Dec 1;78(6):1777-1787. Epub 2023 May 16 doi: 10.1097/HEP.0000000000000461. PMID: 37184208Free PMC Article
Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article
Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
Aubert G, Strauss KA, Lansdorp PM, Rider NL
J Allergy Clin Immunol 2017 Oct;140(4):1120-1129.e1. Epub 2017 Jan 23 doi: 10.1016/j.jaci.2016.11.051. PMID: 28126377

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