Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28

Maria Bernarda Pitzianti, Angelo Santamaria Palombo, Susanna Esposito and Augusto Pasini
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Maria Bernarda Pitzianti: Division of Child Neuropsychiatry, Department of Neuroscience, University of Rome Tor Vergata, 00133 Rome, Italy
Angelo Santamaria Palombo: Division of Child Neuropsychiatry, Department of Neuroscience, University of Rome Tor Vergata, 00133 Rome, Italy
Susanna Esposito: Paediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, 06129 Perugia, Italy
Augusto Pasini: Division of Child Neuropsychiatry, Department of Neuroscience, University of Rome Tor Vergata, 00133 Rome, Italy

IJERPH, 2019, vol. 16, issue 17, 1-4

Abstract: Rett syndrome (RTT) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the X-linked methyl-CpG binding protein 2 (MECP2) gene in approximately 90% of patients. RTT is characterized by a brief period of normal development followed by loss of acquired skills and evolution towards impairment of brain and motor functions and multi-organ dysfunction. Originally, RTT was considered lethal in males as it has an X-linked dominant inheritance. However, although this syndrome has a higher incidence in females, rare cases are also documented in males. Here, we describe the case of an 11-year-old male patient with a microduplication MECP2 Xq28. Our patient is currently living, while his older brother with the same mutation died at the age of 9 years. We showed that the role of MECP2 as an epigenetic modulator and the X-chromosome inactivation pattern can explain the lethal clinical form of the older brother with the same microduplication MECP2 Xq28 presented by our patient who is still alive. Given the limited case history of RTT in males, further studies are needed to better characterize this syndrome in males and consequently improve the currently available therapeutic strategies.

Keywords: intellectual disability; MECP2; microduplication MECP2 Xq28; neurodevelopmental disorder; Rett syndrome (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2019
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