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.
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Pediatric NeurologyAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- The spectrum of phenotypes in females with Rett syndrome.Brain Dev. 2003; 25: 346-351
- Head growth in Rett syndrome.Brain Dev. 2001; 23: S227-S229
- Preserved speech variant is allelic of classic Rett syndrome.EJHG. 2000; 8: 325-330
- The Rett girls with preserved speech.Brain Dev. 1992; 14: 98-101
- Rett syndrome-like hand washing, developmental arrest and autistic symptoms in two Italian girls.Eur Child Adolesc Psychiatry. 1994; 3: 52-56
- Rett syndrome—Distribution of phenotypes with special attention to the preserved speech variant.Neuropediatrics. 1995; 26: 87
- Preserved speech variants of the Rett syndrome: Molecular and clinical analysis.AJMG. 2001; 104: 14-22
Article info
Publication history
Accepted:
December 31,
2012
Received:
October 10,
2012
Identification
Copyright
© 2013 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
