Angelman syndrome and thyroid dysfunction.
Angelman syndrome (AS) is a neurogenetic syndrome, has a prevalence of 1:10,000 to 1:40,000. Patients with AS have genetic alterations in maternal imprinting gene UB3A (15q11-q13) and molecular evaluations confirm the diagnosis. Our aim is to report a new case with AS and subclinical hypothyroidism (SCH) without goiter. Thyroid dysfunction has not been described as part of alterations in AS; the exact pathogenic mechanisms of SCH in patients with AS remains incompletely unknown.
Laboratorio de Citogenética Genotoxicidad y Biomonitoreo, Instituto de Genética Humana "Dr. Enrique Corona Rivera", Departamento de Biologia Molecular y Genómica,/ IICIA, Universidad de Guadalajara, Guadalajara, Jalisco, México.
C E
CE
Monterrubio-Ledezma
L
L
Bobadilla-Morales
H J
HJ
Pimentel-Gutiérrez
J R
JR
Corona-Rivera
A
A
Corona-Rivera
D017204:Angelman Syndrome / Q000150:complications* / Q000503:physiopathology; D002648:Child; D005260:Female; D006801:Humans; D013959:Thyroid Diseases / Q000209:etiology* / Q000503:physiopathology*