Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.


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PMID (PMCID)
24328834
 FEMALE
Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.
Venkateswaran S, McMillan HJ, Doja A, Humphreys P.
Dev Med Child Neurol. 2014;56(1):91-4.
In addition to classic and variant Rett syndrome, phenotypes include non-specific intellectual disability and autism spectrum disorder in females, and fatal neonatal encephalopathy in males.
23468869
(3585308)
 FEMALE Adult
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
Grillo E, Lo Rizzo C, Bianciardi L, Bizzarri V, Baldassarri M, Spiga O, Furini S, De Felice C, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Mencarelli MA, Hayek J, Meloni I, Ariani F, Mari F, Renieri A.
PLoS One. 2013;8(2):e56599.
Although each pair of sisters had the same MECP2 (OMIM*300005) mutation and balanced X-inactivation, one individual from each pair could not speak or walk, and had a profound intellectual deficit (classical Rett syndrome), while the other individual could speak and walk, and had a moderate intellectual disability (Zappella variant).
21871116
(3176152)
 FEMALE
De novo deletion in MECP2 in a monozygotic twin pair: a case report.
Mittal K, Kabra M, Juyal R, BK T.
BMC Med Genet. 2011;12:113.
Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder predominantly observed in females that leads to intellectual disability.
19752159
 FEMALE Child
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE.
J Med Genet. 2010;47(3):211-6.
We analysed 185 females from three cohorts: 42 with Rett syndrome who were negative for MECP2 and CDKL5 mutations, 57 with autism spectrum disorders, and 86 with epilepsy with or without intellectual disability.
18989701
 MIXED_SAMPLE Child
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
Adegbola AA, Gonzales ML, Chess A, LaSalle JM, Cox GF.
Hum Genet. 2009;124(6):615-23.
Mutations in MECP2 cause classic or preserved speech variant Rett syndrome and intellectual disability in females and early demise or marked neurodevelopmental handicap in males.