Prenatal Diagnosis in Rett Syndrome

Armstrong, Judith; Aibar, Elena; Pineda, Merçè; Pérez, M Medina; Geán, Esther; Carrera, Marta; C, Casas Fernández; Martínez, Felicia Amaralis Tru; Monrós, Eugènia

doi:10.1159/000059370

Cited by 9 publications

(4 citation statements)

References 25 publications

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“…14,69 Therefore, when a child with a mutation in MECP2 has been identified, it is important to consider prenatal testing for subsequent pregnancies in the mother, even when a mutation in MECP2 is not identified in her DNA. 75,76…”

Section: Discussionmentioning

confidence: 99%

Clinical Variability in Rett Syndrome

et al. 2003

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The clinical variability of Rett syndrome, associated with mutations in the MECP2 gene, varies from classically symptomatic female patients to asymptomatic female patients, and male patients who have none of the diagnostic features considered pathognomonic of this disease. Multiple factors contribute to this variability. In our studies, mutations closer to the amino-terminus, prior to amino acid 255, led to severe clinical manifestations, such as inability to walk, severe dysphagia, and urinary organic acid abnormalities, compared with mutations toward the carboxyl-terminus. However, we found no correlation between severity and mutation type (missense versus nonsense). Despite the importance of mutation location to clinical severity, the widely varying severity within the same mutation suggests that in females, X-chromosome inactivation or other epigenetic phenomena also have roles in determining severity. We propose that stages 1 and 2 of the disease are a consequence of failed, time-linked, postnatal expression of MeCP2 in cerebellar neurons. This, in association with glutamate N-methyl-D-aspartate receptor-mediated neuroexcitotoxic injury to the differentiating neurons, results in the transient age-specific autistic-like behavior, motor, and cognitive dysfunction associated with these stages.

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Section: Discussionmentioning

confidence: 99%

Clinical Variability in Rett Syndrome

et al. 2003

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“…If genetic analysis of the mother shows wild-type MeCP2 sequence, the mutation is de novo. However, as the risk of germinal mosaicism exists and some familial cases of RTT (without apparent MeCP2 mutation in the parents) are reported in the literature,[8] the possibility of PND, even in the absence of genomic mutation in parents, must be discussed with the couple.…”

Section: Resultsmentioning

confidence: 99%

Rett syndrome molecular diagnosis and implications in genetic counseling

Noruzinia¹,

Akbari²,

Ghofrani³

et al. 2007

Indian J Hum Genet

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Rett syndrome is a rare genetic X-linked dominant disorder. This syndrome is the most frequent cause of mental retardation in girls. In the classical form of the disease, the presenting signs and the course of development are characteristic. However clinical diagnosis can be very difficult when the expression is not in the classical form. Mutations in MeCP2 are responsible for 80% of cases. When MeCP2 mutation is found in an index case, genetic counseling is similar to that in other X-linked dominant genetic diseases. However, mutations in this gene can cause a spectrum of atypical forms. On the other hand, other genetic conditions like translocations, sex chromosome numerical anomalies, and mutations in other genes can complicate genetic counseling in this syndrome. We present the first case of molecular diagnosis of Rett syndrome in Iran and discuss the recent developments in its genetic counseling.

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“…The first case of RTT caused by germline mosaicism identified in prenatal diagnosis was reported as a result. Although the risk of RTT recurrence is low, the investigators pointed out that prenatal diagnosis should be offered to parents with a proband with a mutation in the MECP2 gene [10,23,33]. Thus, the parents of the proband in this study were referred to this clinic for prenatal diagnosis during their second pregnancy.…”

Section: Discussionmentioning

confidence: 99%

A novel mutation in the mutations in the methyl-CpG-binding protein 2 (MECP2) gene in a Chinese patient with typical Rett syndrome and subsequent prenatal diagnosis

Ma¹,

Liu²,

Luo³

et al. 2018

Clin. Exp. Obstet. Gynecol.

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Rett syndrome (RTT), which is a progressive neurodevelopmental disorder characterized by early neurological regression, severely affects cognitive function, as well as motor and language skills. Mutations in the methyl-CpG-binding protein 2 (MECP2) gene have been found in most patients with typical RTT. In this study, a female patient with severe symptoms was diagnosed as typical RTT according to the revised diagnostic criteria. Genetic analysis reveals that the child had a novel frameshift mutation, c.368delA (p.Tyr123PhefsX2), in exon 3 of the MECP2 gene. After genetic counseling, the parents were referred to the present clinic for prenatal diagnosis during their second pregnancy. The mutation was not detected in this fetus and was predicted to be unaffected by RTT. Here, the authors report a novel mutation in the MECP2 gene of a patient with typical RTT, which provides accurate information for genetic counseling and prenatal diagnosis.

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Prenatal Diagnosis in Rett Syndrome

Cited by 9 publications

References 25 publications

Clinical Variability in Rett Syndrome

Clinical Variability in Rett Syndrome

Rett syndrome molecular diagnosis and implications in genetic counseling

A novel mutation in the mutations in the methyl-CpG-binding protein 2 (MECP2) gene in a Chinese patient with typical Rett syndrome and subsequent prenatal diagnosis

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