ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
Mutations in the X-encoded gene ATRX are known to give rise to syndromic mental retardation in male patients whereas female carriers show preferential inactivation of the mutated X chromosome and appear healthy. Here, we describe a 4-year-old girl with typical features of ATRX syndrome, carrying the recurrent R246C mutation of ATRX. We show that her pattern of X-inactivation is totally skewed and that her active X chromosome which harbors the ATRX mutation, was maternally inherited. To our knowledge, this is the first report of ATRX syndrome in a female patient. Since she was born after in vitro fertilization (IVF), we propose a possible link between assisted reproduction technologies (ART) and the unexpected X chromosome methylation pattern that we observed.
Badens
Catherine
C
Laboratoire de Génétique Moléculaire, Hôpital d'enfants de la Timone, Marseille, France.
Martini
Nathalie
N
Courrier
Sébastien
S
DesPortes
Vincent
V
Touraine
Renaud
R
Levy
Nicolas
N
Edery
Patrick
P
D002675:Child, Preschool; D004265:DNA Helicases / Q000235:genetics*; D005260:Female; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics; D049951:X Chromosome Inactivation / Q000235:genetics*; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology
D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein