Somatic and gonadal mosaicism in X-linked retinitis pigmentosa

American Journal of Medical Genetics, Part A

Volumn 143, Issue 21, 2007, Pages 2544-2548

  Jin, Zi Bing ^a   Gu, Feng ^a   Matsuda, Hirokazu ^b   Yukawa, Nobuhiro ^b   Ma, Xu ^a,b,c   Nao i, Nobuhisa ^a  

^a UNIVERSITY OF MIYAZAKI   (Japan)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^c WHO Collaborative Center for Research in Human Reproduction   (China)

Author keywords

RPGR gene; Somatic gonadal mosaicism; X linked retinitis pigmentosa

Indexed keywords

GENOMIC DNA;

ARTICLE; BLOOD SAMPLING; CHEEK; CLINICAL ARTICLE; DNA EXTRACTION; ELECTRORETINOGRAPHY; EYE EXAMINATION; FAMILY STUDY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GONADAL MOSAICISM; HAIR FOLLICLE; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; JAPANESE; MALE; MOLECULAR GENETICS; MOSAICISM; OPEN READING FRAME; OPHTHALMOSCOPY; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RPGR GENE; SEX CHROMOSOME; SOMATIC MOSAICISM; SOMATIC MUTATION; X CHROMOSOME LINKED DISORDER;

ADULT; AGED; AGED, 80 AND OVER; CHROMOSOMES, HUMAN, X; EYE PROTEINS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MIDDLE AGED; MOSAICISM; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA;

EID: 35848960805     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31984     Document Type: Article

References (9)

1. Debeer P, Huysmans C, Van de Ven WJM, Fryns JP, Devriendt K. 2005. Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation. Am J Med Genet Part A 134A: 318-320.
2. Essen-Moller E. 1938. Die Beweiskraft derAhnlichkeit im Vater-. schaftsnachweis. Theoretische Grundlagen. Mitt Anth Ges Wien 68:9-53.
3. Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andreasson S, Swaroop A. 1997. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region but splice defects in two families. Am J Hum Genet 61:571-580.
4. Jin ZB, Liu XQ, Uchida A, Vervoort R, Morishita K, Hayakawa M, Murakami A, Matsumoto N, Niikawa N, Nao-i N. 2005. Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family. Mol Vis 11:535-541.
5. Jin ZB, Hayakawa M, Murakami A, Nao-i N. 2006. RCC1-like domain and OR F15:essentials in RPGR gene. In: Hollyfield JGA, Robert E, LaVail MM, editors. Retinal Degenerative Diseases. New York: Springer. p 29-33.
6. Najera C, Millan JM, Beneyto M, Prieto F. 1995. Epidemiology of retinitis pigmentosa in the Valencian community (Spain). Genet Epidemiol 12:37-46.
7. Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM. 2007. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: Genotype-phenotype correlations and impact on genetic counseling. Hum Mutat 28:81-91.
8. Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G. 2005. Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. Am J Med Genet Part A 135A:66-68.
9. Zlotogora J. 1998. Germ line mosaicism. Hum Genet 102:381-386.