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Atypical Features in MECP2 P152R–Associated Rett Syndrome

      Abstract

      Background

      Rett syndrome is a neurodevelopmental disorder that occurs in individuals with a mutation in the X-linked methyl-CpG-binding protein 2 (2MECP2) gene. 2MECP2 mutations produce a high degree of variability in the clinical phenotypes including the classic Rett features of head growth deceleration, psychomotor regression, deviant communicative ability, hand stereotypes, autonomic dysfunction, and seizures. Atypical forms of Rett such as those with preserved speech do not follow these characteristics.

      Patient

      We report a 9-year-old girl with atypical Rett (macrocephaly, preserved speech, and psychiatric manifestations) with a 2MECP2 (P152R) mutation that generally is not associated with these clinical signs.

      Conclusion

      This case broadens the genotype-phenotype correlation between the P152R mutation 2MECP2-associated Rett syndrome.
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      References

        • Huppke P.
        • Held M.
        • Laccone F.
        • Hanefeld F.
        The spectrum of phenotypes in females with Rett syndrome.
        Brain Dev. 2003; 25: 346-351
        • Hagberg G.
        • Stenbom Y.
        • Engerstrom I.W.
        Head growth in Rett syndrome.
        Brain Dev. 2001; 23: S227-S229
        • Bona C.
        • Zappella M.
        • Hayek G.
        • et al.
        Preserved speech variant is allelic of classic Rett syndrome.
        EJHG. 2000; 8: 325-330
        • Zappella M.
        The Rett girls with preserved speech.
        Brain Dev. 1992; 14: 98-101
        • Zappella M.
        Rett syndrome-like hand washing, developmental arrest and autistic symptoms in two Italian girls.
        Eur Child Adolesc Psychiatry. 1994; 3: 52-56
        • Skejedal O.H.
        • von Tetzchener S.
        • Jacobsen K.
        • Smith L.
        Rett syndrome—Distribution of phenotypes with special attention to the preserved speech variant.
        Neuropediatrics. 1995; 26: 87
        • Zappella M.
        • Ilaria M.
        • Ilaria L.
        • Giuseppe H.
        • Alessandra R.
        Preserved speech variants of the Rett syndrome: Molecular and clinical analysis.
        AJMG. 2001; 104: 14-22