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Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett‐like features by C Pescucci; I Meloni; M Bruttini; F Ariani; I Longo; F Mari; R Canitano; G Hayek; M Zappella; A Renieri is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett‐like features about?

We present here a unique case of a 14‐year‐old female with autism and some features similar to Rett syndrome (RTT). Genetic analysis demonstrated a large deletion of chromosome 2q instead of a __MECP2__ mutation. Like a Rett patient, she is dyspraxic and shows frequent hand‐washing stereotypic activities, hyperpnea, and bruxism. Like a preserved speech variant (PSV) of RTT, she is obese, able to speak in second and third persons, frequently echolalic, and has final normal head circumference and autistic behavior. In addition, she has dysmorphic features such as down‐slanting palpebral fissures, low set ears without lobuli, bilateral flat feet, and bilateral syndactyly of the second and third toes, which do not belong to the Rett spectrum. She has a __de novo__ chromosomal deletion in 2q34 of paternal origin. Gene content analysis of the deleted region showed the presence of 47 genes (14 putative and 33 known genes). This region contains some interesting genes such as __ADAM23__/__MDC3__, __CREB1__, __KLF7__, and __MAP2__. Because alteration of neuronal maturation, dendritic anomalies, and a decrease in MAP2 immunoreactivity in white matter neurons are well documented in RTT patient

Who reads Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett‐like features?

Author

C Pescucci; I Meloni; M Bruttini; F Ariani; I Longo; F Mari; R Canitano; G Hayek; M Zappella; A Renieri

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0009-9163)

Published

2003

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)