Dyskeratosis congenita

  • 1  Savage SA. Dyskeratosis congenita. In: Pagon RA, AdamMP, Ardinger HH, et al., eds. GeneReviews. Seattle, WA: University of Washington, 1993–2014.
  • 2  Mason PJ, Bessler M. The genetics of dyskeratosis congenita. Cancer Genet 2011;204:635–45. Cross Ref link Pubmed link
  • 3  Savage SA, Alter BP. Dyskeratosis congenita. Hematol Oncol Clin North Am 2009;23:215–31. Cross Ref link Pubmed link
  • 4  Maser RS, DePinho RA. Connecting chromosomes, crisis and cancer. Science 2002;297:565–9. Cross Ref link Pubmed link
  • 5  Kong CM, Lee XW, Wang X. Telomere shortening in human diseases. FEBS J 2013;280:3180–93. Cross Ref link Pubmed link
  • 6  Collins K, Mitchell JR. Telomerase in the human organism. Oncogene 2002;21:564–79. Cross Ref link Pubmed link
  • 7  De Lange T. Shelterin: the protein complex that shapes and safeguards human telomeres. Genes Dev 2005;19:2100–10. Cross Ref link Pubmed link
  • 8  Walne AJ, Vulliamy T, Kirwan, et al. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet 2013;92:448–53. Cross Ref link Pubmed link
  • 9  Davidson HR, Connor JM. Dyskeratosis congenita. J Med Genet 1988;25:843–6. Cross Ref link Pubmed link
  • 10  Armanios M, Chen J‐L, Chang Y‐PC, et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 2005;102:15960–4. Cross Ref link Pubmed link
  • 11  Walne AJ, Vulliamy T, Marrone A, et al. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase‐associated protein NOP10. Hum Mol Genet 2007;16:1619–29. Cross Ref link Pubmed link
  • 12  Mochizuki Y, He J, Kulkarni S, et al. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc Natl Acad Sci USA 2004;101:10756–61. Cross Ref link Pubmed link
  • 13  Vulliamy TJ, Knight SW, Dokal I, Mason PJ. Skewed X‐inactivation in carriers of X‐linked dyskeratosis congenita. Blood 1997;90:2213–16. Pubmed link
  • 14  Vulliamy T, Marrone A, Goldman F, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001;413:432–5. Cross Ref link Pubmed link
  • 15  Vulliamy T, Marrone A, Szydlo R, et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nature Genet 2004;36:447–9. Cross Ref link Pubmed link
  • 16  Yamaguchi H, Baerlocher GM, Lansdorp PM, et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 2003;102:916–18. Cross Ref link Pubmed link
  • 17  Yamaguchi H, Caldo RT, Ly H, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 2005;352:1413–24. Cross Ref link Pubmed link
  • 18  Marrone A, Walne A, Tamary H, et al. Telomerase reverse‐transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal–Hreidarsson syndrome. Blood 2007;110:4198–205. Cross Ref link Pubmed link
  • 19  Vulliamy T, Beswick R, Kirwan M, et al. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci USA 2008;105:8073–8. Cross Ref link Pubmed link
  • 20  Zhong F, Savage SA, SHkreli M, et al. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev 2011;25:11–16. Cross Ref link Pubmed link
  • 21  Ballew BJ, Yeager M, Jacobs K, et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita. Hum Genet 2013;132:473–80. Cross Ref link Pubmed link
  • 22  Narla A, Ebert BL. Ribosomopathies: human disorders of ribosome dysfunction. Blood 2010;115:3196–205. Cross Ref link Pubmed link
  • 23  Pereboom TC, van Weele LJ, Bondt A, MacInnes AW. A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein‐mediated p52 stabilisation. Blood 2011;118:5458–65. Cross Ref link Pubmed link
  • 24  Angrisani A, Vicidomini R, Turano M, Furia M. Human dyskerin: beyond telomeres. Biol Chem 2014;395:593–610. Cross Ref link Pubmed link
  • 25  Carrillo J, González A, Manguán‐García C, et al. p53pathway activation by telomere attrition in X‐DC primary fibroblasts occurs in the absence of ribosome biogenesis failure and as a consequence of DNA damage. Clin Transl Oncol 2014;16:529–38. Cross Ref link Pubmed link
  • 26  Knight S, Vulliamy T, Copplestone A, et al. Dyskeratosis Congenita (DC) Registry: identification of new features of DC. Br J Haemat 1998;103:990–6. Cross Ref link
  • 27  Vulliamy TJ, Marrone A, Knight SW, et al. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006;107:2680–5. Cross Ref link Pubmed link
  • 28  Milgrom H, Stoll HJ, Crissey JT. Dyskeratosis congenita. A case with new features. Arch Dermatol 1964;89:345–9. Cross Ref link Pubmed link
  • 29  Sznajer Y, Baumann C, David A, et al. Further delineation of the congenital form of X‐linked dyskeratosis congenita (Hoyeraal–Hreidarsson syndrome). Eur J Pediatr 2003;162:863–7. Cross Ref link Pubmed link
  • 30  Revesz T, Fletcher S, al Gazali LI, DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet 1992;29:673–5. Cross Ref link Pubmed link
  • 31  Savage SA, Giri N, Baerlocher GM, et al. TINF2, a component of the shelterin telomere protection system, is mutated in dyskeratosis congenita. Am J Hum Genet 2008;82:501–9. Cross Ref link Pubmed link
  • 32  Yabe M, Yabe H, Hattori K, et al. Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation. Bone Marrow Transplant 1997;19:389–92. Cross Ref link Pubmed link
  • 33  Davidson HR, Connor JM. Dyskeratosis congenita. J Med Genet 1988;25:843–6. Cross Ref link Pubmed link
  • 34  Pritchard SL, Junker AK. Positive response to granulocyte‐colony‐stimulating factor in dyskeratosis congenita before matched unrelated bone marrow transplantation. Am J Pediatr Hematol Oncol 1994;16:186–7. Pubmed link
  • 35  Koch HF. Effect of retinoids on precancerous lesions of oral mucosa. In: Orfanos CE, Braun‐Falco O, Farber EM, et al., eds. Retinoids. Advances in Basic Research and Therapy. Berlin: Springer, 1981:307–12.

Rothmund–Thomson syndrome

  • 36  Wang LL, Plon SE. Rothmund–Thomson syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews. Seattle, WA: University of Washington, 1993–2014.
  • 37  Tritsch H, Lischka G. Zur Histopathologie der kongenitalen Poikilodermie Thomson. Z Haut Geschlechtskr 1968;43:155–66. Pubmed link
  • 38  Piard J, Aral B, Holder‐Espinasse M, et al. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller–Gerold syndromes. Clin Genet 2014, epub ahead of print. Pubmed link
  • 39  Fan W, Luo J. RecQ4 facilitates UV‐induced DNA damage repair through interaction with nucleotide excision repair factor XPA. J Biol Chem 2008;283:29037–44. Cross Ref link Pubmed link
  • 40  Smith PJ, Paterson MC. Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund–Thomson patients. Mutat Res 1982;94;213–28. Cross Ref link Pubmed link
  • 41  Shinya A, Nishigori C, Moriwaki S, et al. A case of Rothmund–Thomson syndrome with reduced DNA repair capacity. Arch Dermatol 1993;129:332–6. Cross Ref link Pubmed link
  • 42  Siitonen HA, Sotkasiira J, Biervliet M, et al. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet 2009;17:151–8. Cross Ref link Pubmed link
  • 43  Ying KL, Olzumi J, Curry CJ. Rothmund–Thomson syndrome associated with trisomy 8 mosaicism. J Med Genet 1990;27:258–60. Cross Ref link Pubmed link
  • 44  Van Maldergem L, Siitonen HA, Jalkh N, et al. Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller–Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet 2006;43:148–52. Cross Ref link Pubmed link
  • 45  Siitonen HA, Kopra O, Kääriäinen H, et al. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum Mol Genet 2003;12:2837–44. Cross Ref link Pubmed link
  • 46  Wang LL, Levy ML, Lewis RA, et al. Clinical manifestations in a cohort of 41 Rothmund–Thomson syndrome patients. Am J Med Genet 2001;102:11–17. Cross Ref link Pubmed link
  • 47  Moss C. Rothmund–Thomson syndrome: a report of two patients and a review of the literature. Br J Dermatol 1990;122:821–9. Cross Ref link Pubmed link
  • 48  Vennos EM, Collins M, James WD. Rothmund–Thomson syndrome: review of the world literature. J Am Acad Dermatol 1992;27:750–62. Cross Ref link Pubmed link
  • 49  Berg E, Chuang T‐Y, Cripps D. Rothmund–Thomson syndrome. A case report, phototesting, and literature review. J Am Acad Dermatol 1987;17:332–8. Cross Ref link Pubmed link
  • 50  Kanitakis C, Ktenides MA. Lésions kératosiques et verruqueuses au cours du syndrome de Thomson. Ann Dermatol Syphiligr 1972;99:269–76.
  • 51  Stinco G, Governatori G, Mattighello P, Patrone P. Multiple cutaneous neoplasms in a patient with Rothmund–Thomson syndrome: case report and published work review. J Dermatol 2008;35:154–61. Cross Ref link Pubmed link
  • 52  Werder EA, Mürset G, Illig R, et al. Hypogonadism and parathyroid adenoma in congenital poikiloderma (Rothmund–Thomson syndrome). Clin Endocrinol 1975;4:75–82. Cross Ref link
  • 53  Lapunzina P, Fonseca E, Gracia R, et al. Rothmund–Thomson syndrome and Addison disease. Pediatr Dermatol 1995;12:164–9. Cross Ref link Pubmed link
  • 54  Rizzari C, Bacchiocchi D, Rovelli A, et al. Myelodysplastic syndrome in a child with Rothmund–Thomson syndrome: a case report. J Pediatr Hematol Oncol 1996;18:96–7. Cross Ref link Pubmed link
  • 55  Simon T, Kohlhase J, Wilhelm C, et al. Multiple malignant diseases in a patient with Rothmund–Thomson syndrome with RECQL4 mutations: case report and literature review. Am J Med Genet 2010;152A:1575–9. Pubmed link
  • 56  Van‐Hees CL, Van‐Duinen CM, Bruijin JA, et al. Malignant eccrine poroma in a patient with Rothmund–Thomson syndrome. Br J Dermatol 1996;134:813–15. Cross Ref link Pubmed link
  • 57  Ilhan I, Arikan U, Buyukpamukcu M. Rothmund–Thomson syndrome and malignant fibrous histiocytoma: a case report. Pediatr Hematol Oncol 1995;12:103–5. Cross Ref link Pubmed link
  • 58  Blaustein HS, Stevens AW, Stevens PD, et al. Rothmund–Thomson syndrome associated with annular pancreas and duodenal stenosis: a case report. Pediatr Dermatol 1993;10:159–63. Cross Ref link Pubmed link
  • 59  Shuttleworth D, Marks R. Congenital poikiloderma: treatment with etretinate. Br J Dermatol 1988;118:729–30. Cross Ref link Pubmed link
  • 60  Potozkin JR, Geronemus RG. Treatment of the poikilodermatous component of the Rothmund–Thomson syndrome with the flashlamp‐pumped pulsed dye laser: a case report. Pediatr Dermatol 1991;8:162–5. Cross Ref link Pubmed link

Poikiloderma with neutropenia, Clericuzio type

  • 61  Clericuzio C, Hoyme HE, Aase JM. Immune deficient poikiloderma: a new genodermatosis. Am J Hum Genet 1991;49(Suppl.):131. Pubmed link
  • 62  Erickson RP. Southwestern Athabaskan (Navajo and Apache) genetic diseases. Genet Med 1999;1:151–7. Cross Ref link Pubmed link
  • 63  Wang LL, Gannavarapu A, Clericuzio CL, et al. Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non‐Navajo patients. Am J Med Genet 2003;118A:299–301. Cross Ref link Pubmed link
  • 64  Mostefai R, Morice‐Picard F, Boralevi F, et al. Piokiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet 2008;146A:2762–9. Cross Ref link Pubmed link
  • 65  Volpi L, Roversi G, Colombo EA, et al. Targeted next‐generation sequencing appoints C16orf57 as Clericuzio‐type poikiloderma with neutropenia gene. Am J Hum Genet 2010;86:72–6. Cross Ref link Pubmed link
  • 66  Tanaka A, Morice‐Picard F, Lacombe D, et al. Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio‐type poikiloderma with neutropenia. Am J Med Genet 2010;152A:1347–8. Pubmed link
  • 67  Walne AJ, Vulliamy T, Beswick R, et al. Mutations in C16orf57 and normal‐length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome. Hum Mol Genet 2010;19:4453–61. Cross Ref link Pubmed link
  • 68  Concolino D, Roversi G, Muzzi G, et al. Clericuzio‐type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Am J Med Genet 2010;152A:2588–94. Cross Ref link Pubmed link
  • 69  Hilcenko C, Simpson PJ, Finch AJ, et al. Aberrant 3′ oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. Cancer Genet 2011;204:635–45. Cross Ref link Pubmed link

Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis

  • 70  Mercier S, Kury S, Shabodien G, et al. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet 2013;93:1100–7. Cross Ref link Pubmed link
  • 71  Khumalo N, Pillay K, Beighton P, et al. Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominany syndrome? Br J Dermatol 2006;155:1057–61. Cross Ref link Pubmed link

Acrokeratotic poikiloderma of Weary

  • 72  Weary PE, Hsu YT, Richardson DR, et al. Hereditary sclerosing poikiloderma: report of two families with an unusual and distinctive genodermatosis. Arch Dermatol 1969;100:413–22. Cross Ref link Pubmed link
  • 73  Fazio M, Lisi S, Amantea A, et al. [Weary. Hereditary sclerosing poikiloderma.] Ann Dermatol Venereol 1995;122:618–20. Pubmed link
  • 74  Grau Salvat C, Pont V, Cors JR, Aliaga A. Hereditary sclerosing poikiloderma of Weary: report of a new case. Br J Dermatol 1999;140:366–8. Cross Ref link Pubmed link