G2Cdb::Human Disease report

Disease id
D00000151
Name
Premature thelarche
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001473 GNAS
GNAS complex locus
Y (15289771) Microinsertion (MI) Y

References

  • Activating GNAS1 gene mutations in patients with premature thelarche.

    Román R, Johnson MC, Codner E, Boric MA, áVila A and Cassorla F

    Institute of Maternal and Child Research, San Borja Arriarán Clinical Hospital, School of Medicine, University of Chile, Santiago, Chile.

    Objective: To identify GNAS1 gene mutations in girls with exaggerated and/or chronic fluctuating thelarche for at least 1-year duration with no other signs of precocious puberty, skeletal dysplasia, or typical skin lesions of McCune-Albright syndrome.

    We studied the GNAS1 gene mutation by allele-specific polymerase chain reaction and enzymatic digestion in leukocyte DNA in 23 girls previously described.

    Results: Fluctuating thelarche was present in 14 girls and exaggerated thelarche was observed in 9. Molecular study revealed that 6 girls had a substitution of arginine by histidine in codon 201 (R201H [+]). Three R201H (+) girls reached their menarche at a mean chronologic age of 10.8 years and 9 of the R201H (-) girls at a mean age of 11 years.

    Conclusions: Activating mutations of GNAS1 gene may be observed in some girls with chronic fluctuating and/or exaggerated thelarche, without other classic signs of McCune-Albright syndrome.

    The Journal of pediatrics 2004;145;2;218-22

Literature (1)

Pubmed - human_disease

  • Activating GNAS1 gene mutations in patients with premature thelarche.

    Román R, Johnson MC, Codner E, Boric MA, áVila A and Cassorla F

    Institute of Maternal and Child Research, San Borja Arriarán Clinical Hospital, School of Medicine, University of Chile, Santiago, Chile.

    Objective: To identify GNAS1 gene mutations in girls with exaggerated and/or chronic fluctuating thelarche for at least 1-year duration with no other signs of precocious puberty, skeletal dysplasia, or typical skin lesions of McCune-Albright syndrome.

    We studied the GNAS1 gene mutation by allele-specific polymerase chain reaction and enzymatic digestion in leukocyte DNA in 23 girls previously described.

    Results: Fluctuating thelarche was present in 14 girls and exaggerated thelarche was observed in 9. Molecular study revealed that 6 girls had a substitution of arginine by histidine in codon 201 (R201H [+]). Three R201H (+) girls reached their menarche at a mean chronologic age of 10.8 years and 9 of the R201H (-) girls at a mean age of 11 years.

    Conclusions: Activating mutations of GNAS1 gene may be observed in some girls with chronic fluctuating and/or exaggerated thelarche, without other classic signs of McCune-Albright syndrome.

    The Journal of pediatrics 2004;145;2;218-22

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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