Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia

Pediatric Blood and Cancer

Volumn 62, Issue 12, 2015, Pages 2229-2231

  Kim, Hee Jung ^a   Song, Min Jung ^a   Lee, Ki O ^b   Kim, Sun Hee ^a   Kim, Hee Jin ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Samsung Medical Center   (South Korea)

Author keywords

ELANE; Severe congenital neutropenia; Somatic mosaicism

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA FLANKING REGION; DNA SEQUENCE; ELANE GENE; EXON; FAMILY STUDY; FATHER; FRAMESHIFT MUTATION; GENE; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOTE; HUMAN; INFANT; INTRON; LEUKOCYTE COUNT; MALE; MISSENSE MUTATION; MOSAICISM; MUTATIONAL ANALYSIS; NEUTROPHIL COUNT; OTITIS MEDIA; PNEUMONIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT INFECTION; SEVERE CONGENITAL NEUTROPENIA; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE COUNT; WILD TYPE; ENZYMOLOGY; GENETICS; NEUTROPENIA;

LEUKOCYTE ELASTASE;

FRAMESHIFT MUTATION; HUMANS; INFANT; LEUKOCYTE ELASTASE; MALE; MOSAICISM; NEUTROPENIA;

EID: 84945247193     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.25654     Document Type: Article

References (13)

1. Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood 2001; 98:2645-2650.
2. Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000; 96:2317-2322.
3. Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007; 109:1817-1824.
4. Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 1999; 23:433-436.
5. Bellanne-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: A study of 81 patients from the French Neutropenia Register. Blood 2004; 103:4119-4125.
6. Leuer M, Oldenburg J, Lavergne JM, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek K. Somatic mosaicism in hemophilia a: A fairly common event. Am J Hum Genet 2001; 69:75-87.
7. Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 2001; 56:1433-1443.
8. Sippel KC, Fraioli RE, Smith GD, Schalkoff ME, Sutherland J, Gallie BL, Dryja TP. Frequency of somatic and germ-line mosaicism in retinoblastoma: Implications for genetic counseling. Am J Hum Genet 1998; 62:610-619.
9. Ancliff PJ, Gale RE, Watts MJ, Liesner R, Hann IM, Strobel S, Linch DC. Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia. Blood 2002; 100:707-709.
10. Germeshausen M, Schulze H, Ballmaier M, Zeidler C, Welte K. Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia. Br J Haematol 2001; 115:222-224.
11. Lee ST, Yoon HS, Kim HJ, Lee JH, Park JH, Kim SH, Seo JJ, Im HJ. A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia. Ann Hematol 2009; 88:593-595.
12. Zhou MY, Gomez-Sanchez CE. Universal TA cloning. Curr Issues Mol Biol 2000; 2:1-7.
13. Kim HJ, Lee KO, Yoo KY, Kim SH, Kim HJ. Maternal low-level somatic mosaicism of Cys155Tyr of F9 in severe hemophilia B. Blood Coagul Fibrinolysis 2014; Nov 14. [Epub ahead of print].