Abstract
To determine the FMR1 gene status in a 10-year, 10-month-old girl with a history of precocious puberty and a family history of fragile X syndrome. Case report. The outpatient facility of the Division of Adolescent Medicine and the Division of Genetic and Metabolic Disorders at Children's Hospital of Michigan and the Medical Genetics and Birth Defects Center of Henry Ford Hospital, Detroit, Michigan. A 10-year, 10-month-old girl with a history of precocious puberty. Evaluation for menorraghia, DNA extraction, and fragile X gene analysis of blood samples from the patient and her mother. Identification of a full mutation in the FMR1 gene. Southern blot analysis of the FMR1 gene identified a full mutation in the daughter with approximately 750 repeats of the CGG sequence. Methylation studies showed that the full mutation was completely methylated. FMR1 DNA studies on her mother identified a premutation of approximately 100 repeats. This report identifies a young girl with a history of precocious puberty and fragile X syndrome. It is also the first report of molecular genetic FMR1 studies in a female with precocious puberty. A possible association between the two conditions is suggested and warrants further investigation.
References
Jun 1, 1975·Journal of Pediatric Surgery·B H TowneH Isaacs
Jul 7, 1976·Human Genetics·J M CantúG Pérez-Palacios
Nov 1, 1992·Journal of Medical Genetics·D HeitzJ L Mandel
Dec 30, 1991·Cell·Y H FuS T Warren
Oct 1, 1990·American Journal of Medical Genetics·P S MooreJ S Winter
Jan 1, 1990·Pediatric Pathology·F RaafatG Rylance
May 15, 1988·Cancer·A G LacsonA Shawwa
Jan 1, 1986·American Journal of Medical Genetics·G D BerkovitzC J Migeon
Jul 1, 1988·Archives of Disease in Childhood·C MoëllT Wiebe
Dec 1, 1988·American Journal of Medical Genetics·M G Butler, J L Najjar
Nov 1, 1987·Archives of Disease in Childhood·A D LeiperJ M Chessells
Mar 1, 1987·The Journal of Pediatrics·J L RossG B Cutler
Jul 1, 1985·The Journal of Clinical Endocrinology and Metabolism·D A HarrisM Vainsel
May 1, 1967·The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine·H Grossman, M New
May 1, 1973·The Journal of Clinical Endocrinology and Metabolism·R PennyD S Frasier
Mar 1, 1984·The Journal of Clinical Endocrinology and Metabolism·F ComiteG B Cutler
Aug 9, 1996·American Journal of Medical Genetics·M KambourisG L Feldman
Apr 16, 1953·The New England Journal of Medicine·C D COOKW BERENBERG
Citations
Oct 25, 2016·Physiology & Behavior·Rebecca Lyndsey Hardiman, Alison Bratt
Mar 3, 2004·Mental Retardation and Developmental Disabilities Research Reviews·David HesslAllan L Reiss
Jul 29, 2017·International Journal of Pediatrics·Chariyawan CharalsawadiPornprot Limprasert