Fetal alcohol syndrome in association with Rett syndrome.
Fetal alcohol syndrome in association with RETT syndrome: We report on a girl with neonatal dystrophy, microcephaly, heart defect, and the characteristic features of alcohol embryopathy. Later, she developed distinctive features of RETT syndrome including loss of early acquired developmental skills and presented typical symptoms of RETT syndrome as reduction of communication skills, reduction of hand function, hyperventilation, and grinding of teeth. Molecular analysis of the MECP2 gene revealed the c.808T>C (R270X) mutation located in the nuclear localisation signal sequence of the gene. Our report highlights the importance of considering the diagnosis of RETT syndrome even in patients who are already suffering from a defined disease.
Institute for Human Genetics, Georg-August-University, Goettingen, Germany. bzoll1@gwdg.de
B
B
Zoll
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P
Huppke
A
A
Wessel
I
I
Bartels
F
F
Laccone
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D063647:Fetal Alcohol Spectrum Disorders / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation; D011247:Pregnancy; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000150:complications* / Q000175:diagnosis
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins