Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report
Abstract
Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associated with epidermal atrophy, telangiectasia, and reticular dyspigmentation skin symptoms of poikiloderma are usually caused by sun damage. The main reason forpoikiloderma is unknown. We introduce a 14- month-old boy who referred to our center with a complaint of fever and cough. Furthermore, hepatosplenomegaly symptoms had been presented at the time of birth and were continuously observed at age one. He had transient thrombocytopenia when he was born due to his prematurity condition, which was resolved during Intravenous Immunoglobin (IVIG) treatment. Therefore, the presence of various mutation scan lead to distinct clinical symptoms. Immunohematologic abnormalities such as increased level of IgM and IgE antibodies, as well as increased C-reactive protein (CRP) and Erythrocyte sedimentation rate (ESR), have been reported. However, mutation of the C16orf57 gene was identified in this patient. We also introduced a new genetic mutation in a particular part of DNA sequence (NM_001195302: exon6: c.T703C) that leads to new clinical finding in PN.
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2. Geronemus R. Poikiloderma of civatte. Arch Dermatol 1990; 126(4):547-8.
3. Arnold A, Itin P, Pigors M, Kohlhase J, Bruckner Tuderman L, Has C. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol 2010; 163(4):866-9.
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5. Clericuzio C, Hoyme H, Aase J, editors. Immune Deficient Poikiloderma-a new Genodermatosis. American Journal of Human Genetics; 1991: Univ Chicago Press 5720 s Woodlawn Ave, Chicago, IL 60637.
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9. Pianigiani E, De Aloe G, Andreassi A, Rubegni P, Fimiani M. Rothmund Thomson Syndrome (Thomson Type) and Myelodysplasia. Pediatr Dermatol 2001; 18(5):422-5.
10. Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, et al. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund–Thomson syndrome. J Natl Cancer Inst 2003; 95(9):669-74.
11. Concolino D, Roversi G, Muzzi G, Sestito S, Colombo E, Volpi L, 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 A 2010; 152(10):2588-94.
12. Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, et al. Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. The Am J Hum Genet 2010; 86(1):72-6.
13. Wahl MC, Will CL, Lührmann R. The spliceosome: design principles of a dynamic RNP machine. Cell 2009; 136(4):701-18.
14. Hilcenko C, Simpson PJ, Finch AJ, Bowler FR, Churcher MJ, Jin L, et al. Aberrant 3′ oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. Blood 2013; 121(6):1028-38.
15. Mason PJ, Bessler M. Poikiloderma with neutropenia: beginning at the end. Blood 2013; 121(6):872-4.
16. Patiroglu T, Akar HHJIJoA, Asthma, Immunology. Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene. 2015; 14(3):331-7.
17. Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. 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(22):4453-61.
18. Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean W, et al. Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A2011; 155(2):337-42.
19. Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, et al. Systematic search for neutropenia should be part of the first screening in patients with poikiloderma. Eur J Med Genet 2012; 55(1):8-11.
20. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000; 110(4):768-79.
21. Chantorn R, Shwayder T. Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis.Pediatr Dermatol 2012; 29(4):463-72.
22. Larizza L, Roversi G, Volpi L. Rothmund-thomson syndrome. Orphanet J Rare Dis 2010; 5(1):2.
23. Porter W, Hardman C, Abdalla S, Powles A. Haematological disease in siblings with Rothmundą Thomson syndrome. Clin Exp Dermatol 1999; 24(6):452-4.
24. Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, et al. Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. Orphanet J Rare Dis 2012; 7(1):7.
25. Rodgers W, Ancliff P, Ponting C, Sanchez‐Pulido L, Burns S, Hayman M, et al. Squamous cell carcinoma in a child with Clericuziotype poikiloderma with neutropenia. Br J Haematol2013; 168(3):665-7.
2. Geronemus R. Poikiloderma of civatte. Arch Dermatol 1990; 126(4):547-8.
3. Arnold A, Itin P, Pigors M, Kohlhase J, Bruckner Tuderman L, Has C. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol 2010; 163(4):866-9.
4. Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, et al. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. Haematologica2016; 101(10):1180-9.
5. Clericuzio C, Hoyme H, Aase J, editors. Immune Deficient Poikiloderma-a new Genodermatosis. American Journal of Human Genetics; 1991: Univ Chicago Press 5720 s Woodlawn Ave, Chicago, IL 60637.
6. Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, et al. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund–Thomson syndrome. Am J Med Genet A 2005; 132(2):152-8.
7. Mostefai R, Morice‐Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, et al. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet A 2008; 146(21):2762-9.
8. Miller S, Dykes D, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16(3):1215.
9. Pianigiani E, De Aloe G, Andreassi A, Rubegni P, Fimiani M. Rothmund Thomson Syndrome (Thomson Type) and Myelodysplasia. Pediatr Dermatol 2001; 18(5):422-5.
10. Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, et al. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund–Thomson syndrome. J Natl Cancer Inst 2003; 95(9):669-74.
11. Concolino D, Roversi G, Muzzi G, Sestito S, Colombo E, Volpi L, 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 A 2010; 152(10):2588-94.
12. Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, et al. Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. The Am J Hum Genet 2010; 86(1):72-6.
13. Wahl MC, Will CL, Lührmann R. The spliceosome: design principles of a dynamic RNP machine. Cell 2009; 136(4):701-18.
14. Hilcenko C, Simpson PJ, Finch AJ, Bowler FR, Churcher MJ, Jin L, et al. Aberrant 3′ oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. Blood 2013; 121(6):1028-38.
15. Mason PJ, Bessler M. Poikiloderma with neutropenia: beginning at the end. Blood 2013; 121(6):872-4.
16. Patiroglu T, Akar HHJIJoA, Asthma, Immunology. Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene. 2015; 14(3):331-7.
17. Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. 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(22):4453-61.
18. Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean W, et al. Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A2011; 155(2):337-42.
19. Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, et al. Systematic search for neutropenia should be part of the first screening in patients with poikiloderma. Eur J Med Genet 2012; 55(1):8-11.
20. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000; 110(4):768-79.
21. Chantorn R, Shwayder T. Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis.Pediatr Dermatol 2012; 29(4):463-72.
22. Larizza L, Roversi G, Volpi L. Rothmund-thomson syndrome. Orphanet J Rare Dis 2010; 5(1):2.
23. Porter W, Hardman C, Abdalla S, Powles A. Haematological disease in siblings with Rothmundą Thomson syndrome. Clin Exp Dermatol 1999; 24(6):452-4.
24. Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, et al. Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. Orphanet J Rare Dis 2012; 7(1):7.
25. Rodgers W, Ancliff P, Ponting C, Sanchez‐Pulido L, Burns S, Hayman M, et al. Squamous cell carcinoma in a child with Clericuziotype poikiloderma with neutropenia. Br J Haematol2013; 168(3):665-7.
| Files | ||
| Issue | Vol 18, No 4 (2019) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/ijaai.v18i4.1424 | |
| PMID | 31522452 | |
| Keywords | ||
| Hepatoslenomegaly Poikiloderma Thrombocytopenia | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Abolnezhadian F, Iranparast S. Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report. Iran J Allergy Asthma Immunol. 2019;18(4):441-446.
