Somatic and gonadal mosaicism in Hutchinson-Gilford progeria

American Journal of Medical Genetics

Volumn 135 A, Issue 1, 2005, Pages 66-68

  Wuyts, Wim ^a,b   Biervliet, Martine ^b   Reyniers, Edwin ^b   D'Apice, Maria Rosaria ^c   Novelli, Giuseppe ^c   Storm, Katrien ^b  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Hutchinson Gilford progeria; LMNA; Mosaicism

Indexed keywords

LAMIN A; MUTANT PROTEIN;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; GENE; GENE MUTATION; GERM LINE; HUMAN; LMNA GENE; MALE; MOSAICISM; PATERNAL AGE; PRIORITY JOURNAL; PROGERIA; SEQUENCE ANALYSIS; SOMATIC CELL;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GERM-LINE MUTATION; HUMANS; LAMIN TYPE A; MALE; MOSAICISM; PEDIGREE; POINT MUTATION; PROGERIA;

EID: 18244376146     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30663     Document Type: Article

References (10)

1. Baker PB, Baba N, Boesel CP. 1981. Cardiovascular abnormalities in progeria. Case report and review of the literature. Arch Pathol Lab Med 105:384-386.
2. D'Apice MR, Tenconi R, Mammi I, van den Ende J, Novelli G. 2004. Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. Clin Genet 65:52-54.
3. De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Levy N. 2003. Lamin A truncation in Hutchinson-Gilford progeria. Science 300:2055.
4. DeBusk FL. 1972. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr 80:697-724.
5. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. 2003. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423:293-298.
6. Khalifa MM. 1989. Hutchinson-Gilford progeria syndrome: Report of a Libyan family and evidence of autosomal recessive inheritance. Clin Genet 35:125-132.
7. Lin F, Worman HJ. 1995. Structural organization of the human gene (LMNB1) encoding nuclear lamin B1. Genomics 27:230-236.
8. Plasilova M, Chattopadhyay C, Pal P, Schaub NA, Buechner SA, Mueller H, Miny P, Ghosh A, Heinimann K. 2004. Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. J Med Genet 41:609-614.
9. Trevas Maciel A. 1988. Evidence for autosomal recessive inheritance of progeria (Hutchinson-Gilford). Am J Med Genet 31:483-487.
10. Zlotogora J. 1998. Germ line mosaicism. Hum Genet 102:381-386.