Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

American Journal of Medical Genetics, Part A

Volumn 155, Issue 2, 2011, Pages 337-342

  Clericuzio, Carol ^a   Harutyunyan, Karine ^b   Jin, Weidong ^b   Erickson, Robert P ^c   Irvine, Alan D ^d   McLean, W H Irwin ^e   Wen, Yaran ^e,f   Bagatell, Rochelle ^g   Griffin, Thomas A ^h   Shwayder, Tor A ⁱ   Plon, Sharon E ^b   Wang, Lisa L ^b  

^a UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF ARIZONA   (United States)

^d OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^e UNIVERSITY OF DUNDEE   (United Kingdom)

^f INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^h CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

ⁱ HENRY FORD HOSPITAL   (United States)

Author keywords

Athabaskan; Bronchiectasis; C16orf57; Mutation; Navajo; Neutropenia; Poikiloderma; RECQL4; Rothmund Thomson syndrome

Indexed keywords

GENOMIC DNA;

ADOLESCENT; AMERICAN INDIAN; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; POIKILODERMA WITH NEUTROPENIA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INDIANS, NORTH AMERICAN; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEUTROPENIA; OPEN READING FRAMES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; ROTHMUND-THOMSON SYNDROME;

EID: 79251528583     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33807     Document Type: Article

References (16)

1. Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C. 2010. Poikiloderma with neutropenia: A novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol 163: 866-869.
2. Clericuzio C, Hoyme HE, Aase JM. 1991. Immune deficient poikiloderma: A new genodermatosis. Am J Hum Genet 49: A661.
3. Erickson RP. 1999. Southwestern Athabaskan (Navajo and Apache) genetic diseases. Genet Med 1: 151-157.
4. Erickson RP. 2009. Autosomal recessive diseases among the Athabaskans of the southwestern United States: Recent advances and implications for the future. Am J Med Genet Part A 149A: 2602-2611.
5. Knoell KA, Sidhu-Malik NK, Malik RK. 1999. Aplastic anemia in a patient with Rothmund-Thomson syndrome. J Pediatr Hematol Oncol 21: 444-446.
6. Mostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, McGrath J, Taieb A. 2008. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet Part A 146A: 2762-2769.
7. Narayan S, Fleming C, Trainer AH, Craig JA. 2001. Rothmund-Thomson syndrome with myelodysplasia. Pediatr Dermatol 18: 210-212.
8. Pianigiani E, De AG, Andreassi A, Rubegni P, Fimiani M. 2001. Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. Pediatr Dermatol 18: 422-425.
9. Porter WM, Hardman CM, Abdalla SH, Powles AV. 1999. Haematological disease in siblings with Rothmund-Thomson syndrome. Clin Exp Dermatol 24: 452-454.
10. Rizzari C, Bacchiocchi D, Rovelli A, Biondi A, Cantu'-Rajnoldi A, Uderzo C, Masera G. 1996. Myelodysplastic syndrome in a child with Rothmund-Thomson syndrome: A case report. J Pediatr Hematol Oncol 18: 96-97.
11. Tanaka A, Morice-Picard F, Lacombe D, Nagy N, Hide M, Taieb A, McGrath J. 2010. Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. Am J Med Genet Part A 152A: 1347-1348.
12. Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, Verbeken E, Demunter A, Boogaerts M. 2005. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am J Med Genet Part A 132A: 152-158.
13. Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L. 2010. Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet 86: 72-76.
14. Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. 2010. 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 19: 4453-4461.
15. Wang LL, Gannavarapu A, Clericuzio CL, Erickson RP, Irvine AD, Plon SE. 2003a. Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet Part A 118A: 299-301.
16. Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE. 2003b. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst 95: 669-674.