Germline mosaicism complicates molecular diagnosis of Lesch-Nyban syndrome

Prenatal Diagnosis

Volumn 24, Issue 9, 2004, Pages 737-740

  Willers, Ingrid ^a,b  

^a UNIVERSITY OF HAMBURG   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Direct DNA sequencing; Indirect DNA diagnosis; Lesch Nyhan syndrome; Mosaicism; Mutation

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

AMNION CELL; ARTICLE; CASE REPORT; FAMILY HISTORY; FETUS; FIBROBLAST CULTURE; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GERM LINE; HAPLOTYPE; HETEROZYGOTE; HUMAN; LESCH NYHAN SYNDROME; LINKAGE ANALYSIS; MALE; MOSAICISM; PEDIGREE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME RECESSIVE INHERITANCE;

CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; LINKAGE (GENETICS); MALE; MOSAICISM; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PRENATAL DIAGNOSIS; RESTRICTION MAPPING;

RAPHIA FRATER;

EID: 4644329601     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.959     Document Type: Article

References (27)

1. Aral B, de Saint Basile G, Al-Garawi S, Kamoun P, Ceballos-Picot I. 1996. Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient. Hum Mutat 7(1): 52-58.
2. Bakker E, Veenema H, Den Dunnen JT, et al. 1989. Germal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet 26(9): 553-559.
3. Bijlsma EK, Wallace AJ, Evans DG. 1997. Misleading linkage results in an NF2 presymptomatic test owing to mosaicism. J Med Genet 34: 934-936.
4. Bunyan DJ, Robinson DO, Collins AL, Cockwell AE, Bullman HM, Wittaker PA. 1994. Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy. Hum Genet 93: 541-544.
5. Chaturvedi LS, Mittal RD, Srivastava S, Mukherjee M, Mittal B. 2000. Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy. Clin Genet 58: 234-236.
6. Cohn DH, Starman BJ, Blumberg B, Byers PH. 1990. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am J Hum Genet 46(3): 591-601.
7. Cserhalmi-Friedman PB, Garzon MC, Guzman E, et al. 2001. Maternal germline mosaicism in dominant Dystrophic epidermolysis bullosa. J Invest Dermatol 117(5): 1327-1328.
8. De Gregorio L, Nyhan WL, Serafin E, Chamoles NA. 2000. An unexpected affected female patient in a classical Lesch-Nyhan family. Mol Genet Metab 69(3): 263-268.
9. DeMars R, Held KR. 1972. The spontaneous azaguanine-resistent mutants of diploid human fibroblasts. Hum Genet 16: 87-110.
10. Du J-S, Bason L, Woffendin H, Zackai E, Kenwrick S. 1998. Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus. Am J Med Genet 75: 200-202.
11. Edwards A, Civitello A, Hammond HA, Caskey CT. 1991. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet 49: 746-756.
12. Felix JS, DeMars R. 1971. Detection of females heterozygous for the Lesch-Nyhan mutation 8-azaguanine resistant growth of cultured fibroblasts. J Lab and Clin Med 77: 596-606.
13. Froissart R, Maire I, Bonnet V, Levade T, Bozen D. 1997. Germline and somatic mosaicism in a female carrier of Hunter disease. J Med Genet 34(2): 137-140.
14. Gleeson JG, Minnerath S, Ruben I, et al. 2000. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet 67: 574-581.
15. Hyland VJ, Robertson SP, Flanagan S, et al. 2003. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from Thanatophoric dysplasia. Am J Med Genet 120A: 157-168.
16. Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP. 2000. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mut Res 463: 309-326.
17. Lesch M, Nyhan WL. 1964. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 36: 561-570.
18. Leuer M, Oldenburg J, Lavergne J-M, et al. 2001. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet 69(1): 75-87.
19. Marcus S, Steen A-M, Andersson B, Lambert B, Kristoffersson U, Francke U. 1992. Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests. Hum Genet 89: 395-400.
20. Pai GS, Sprenke JA, Do TT, Mareni CE, Mignon BK. 1980. Localisation of loci for HPRT and glucose-6-phosphate dehydrogenase and biochemical evidence for non-random X-chromosome expression from studies of a human X-autosome translocation. Proc Natl Acad Sci USA 77: 2810-2813.
21. Smith TA, Yau SC, Bobrow M, Abbs SJ. 1999. Identification and quantification of somatic mosaicism for point mutation in a Duchenne muscular dystrophy family. J Med Genet 36: 313-315.
22. van Essen AJ, Abbs S, Baiget M, et al. 1992a. Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet 88: 249-257.
23. van Essen AJ, Mulder IM, van der Vlies P, van der Hout AH, Buys CHCM, Hofstra RMW. 2003. Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. Am J Med Genet 118A: 296-298.
24. Willers I, Agarwal DP, Singh S, Schloot W, Goedde HW. 1975. Rapid determination of hypoxanthine-guanine phosphoribosyltransferase in human fibroblasts and amniotic cells. Hum Genet 27: 323-328.
25. Willers I, Singh S, Goedde HW. 1984. Studies in fibroblasts of patients with Lesch-Nyhan syndrome and HPRT variants. Enzyme 32: 241-247.
26. Wilton SD, Chandler DC, Kakulas BA, Laing NG. 1994. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. Hum Mutat 3: 133-140.
27. Zlotogora J. 1998. Germ line mosaicism. Hum Genet 102: 381-386.