TY - JOUR
TI - Phenotypic and Genotypic Variability in Four Males With MECP2 Gene
Sequence Aberrations Including a Novel Deletion
AU - Psoni, Stavroula
AU - Sofocleous, Christalena
AU - Traeger-Synodinos,
AU - Joanne
AU - Kitsiou-Tzeli, Sophia
AU - Kanavakis, Emmanuel and
AU - Fryssira-Kanioura, Helen
JO - Pediatric Research
PY - 2010
VL - 67
TODO - 5
SP - 551-556
PB - Nature Publishing Group
SN - 0031-3998, 1530-0447
TODO - 10.1203/PDR.0b013e3181d4ecf7
TODO - null
TODO - The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an
X-linked dominant disorder primarily affecting girls. Until RTT was
considered lethal in males, although now approximately 60 cases have
been reported. Males with MECP2 mutations present with a broad spectrum
of phenotypes ranging from neonatal encephalopathy to nonsyndromic
mental retardation (MR). Four boys (aged, 3-11 y) were evaluated for MR.
Patient I had autistic features. Patients 2 and 3 were brothers both
presenting with psychomotor delay. Patient 4 showed dysmorphic features
and behavioral problems reminiscent of FXS. All patients had a normal
46, XY karyotype and three were tested for FXS with negative results.
MECP2 gene analysis of exons 3 and 4 was performed using methods based
on the PCR, including Enzymatic Cleavage Mismatched Analysis (ECMA) and
direct sequencing. Patient I presented somatic mosaicism for the classic
RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism.
Analysis of the mothers in both cases revealed normal DNA sequences.
Patients 2 and 3 had a novel deletion (c.1140del86) inherited from their
unaffected mother. MECP2 gene mutations may be considered a rare cause
of MR in males although great phenotypic variation hinders
genotype-phenotype correlation. (Pediatr Res 67: 551-556, 2010)
ER -