Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders

Steiner, Carlos Eduardo; Guerreiro, Marilisa M.; Marques-de-Faria, Antônia Paula; Lopes‐Cendes, Íscia

doi:10.1590/s0004-282x2005000400002

Cited by 6 publications

(3 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Compared with the study by Oliveira et al (2004), who analyzed 25 patients from the Municipal School of Autism "Maria Lúcia de Oliveira" in São José do Rio Preto, only 1 was diagnosed with a complete mutation using the PCR technique at a frequency of 4%. The patients were submitted to molecular diagnosis, with a methodology that can now be considered superior to the other previously used tests, such as cytogenetics and Southern Blot, since it allows detecting the expansion of the FMR1 gene and identifying the type of mutation present (Steiner et al, 2005;Amâncio et al, 2015).…”

Section: Discussionmentioning

confidence: 99%

Research Article Molecular Diagnosis of X-Fragile Syndrome: Perspectives for the Public Health System in the Central Region of Brazil

Penteado¹,

Gressler²,

Cruz³

et al. 2017

Genet. Mol. Res.

View full text Add to dashboard Cite

X-Fragile Syndrome (FXS) is the most common cause of inherited intellectual disability and the second of genetic origin, with an estimated prevalence of 1/4000 men and 1/6000 women. The etiology is associated with a trinucleotide expansion of CGG sequences and hypermethylation of the promoter region of the FMR1 (Fragile-X Mental Retardation-1) gene, located in the Xq27.3 region. Symptoms occur due to lack of Fragile X Mental Retardation Protein (FMRP), essential for dendrites growth and synaptic function. This syndrome is commonly underdiagnosed in children and adolescents due to the high phenotypic variability of patients and the need for a complex and high cost laboratory diagnosis. This research aims to evaluate individuals referred by the public health system of Goiás presenting intellectual deficiency suggestive of FXS and submitted to molecular diagnosis by PCR. Thirty-one patients, ranging in age from 4 to 41 years, were analyzed. It was possible to detect molecular alterations in the FMR1 gene in 6 patients with complete mutations, consistent with the observed phenotypes. The use of molecular techniques associated with capillary electrophoresis in an automatic genetic analyser demonstrated rapid and efficient investigation of CGG repeats in the FMR1 gene. Its inclusion in the public health service, in addition to universalizing access to genetic tests in Brazil, bridging the gap between effective diagnosis and the technologies available until Vieira TC, et al. 2 Genetics and Molecular Research 16 (4): gmr16039848 now, has supported families in clarifying the etiology and assessing the risk of recurrence through genetic counselling.

show abstract

Section: Discussionmentioning

confidence: 99%

Research Article Molecular Diagnosis of X-Fragile Syndrome: Perspectives for the Public Health System in the Central Region of Brazil

Penteado¹,

Gressler²,

Cruz³

et al. 2017

Genet. Mol. Res.

View full text Add to dashboard Cite

show abstract

“…The test for diagnosis of FXS is one of the most requested screening tests for genetic diseases (Steiner et al, 2005), and the availability of an enhanced screening process benefits many patients. Rapid and accurate diagnosis, along with stimulation and early treatment, has a great influence on the prognosis of patients with FXS.…”

Section: Introductionmentioning

confidence: 99%

Molecular analysis of patients suspected of Fragile X Syndrome

Amancio¹,

Melo²,

Vieira³

et al. 2015

Genet. Mol. Res.

View full text Add to dashboard Cite

“…Por outro lado, estudos sobre a ocorrência familiar do transtorno são praticamente inexistentes no país, assim como são escassas as pesquisas de cunho epidemiológi-co. Dessas últimas, apenas dois estudos epidemiológicos foram divulgados até o momento 33,34 . Já os trabalhos que focam outras áreas, como diagnóstico, marcadores neurogenéticos, aspectos psicossociais, entre outros, são mais frequentes 28,[35][36][37][38][39][40][41][42][43][44] . Assim, avaliações diagnósticas desse tipo, realizadas pelas equipes de saúde, poderiam ser ampliadas para familiares de primeiro grau.…”

unclassified

Rastreamento de sinais e sintomas de transtornos do espectro do autismo em irmãos

Mecca

Bravo

Velloso

et al. 2011

Rev. psiquiatr. Rio Gd. Sul

View full text Add to dashboard Cite

ResumoOs transtornos globais do desenvolvimento (TGD) são caracterizados por anormalidades qualitativas e abrangentes em três domínios do desenvolvimento: interação social recíproca, comunicação e presença de um repertório comportamental de interesses restritos, repetitivo e estereotipado. Estudos genéticos têm identificado a recorrência de TGD numa mesma família. O presente estudo teve por objetivo rastrear a ocorrência de sinais e sintomas de TGD em irmãos de indivíduos com esse diagnóstico. Participaram do estudo 25 sujeitos provenientes de 19 famílias. A coleta de dados foi realizada mediante a utilização da versão brasileira do Autism Screening Questionnaire (ASQ), ou Questionário de Comportamento e Comunicação Social. Foram confirmados dois casos de irmãos com TGD (10,52% dos casos), sendo um irmão gêmeo monozigótico e um irmão de um probando com diagnóstico de síndrome de Asperger. Os dados apontam para taxas mais elevadas do que aquelas descritas na literatura (2-6%) e se aproximam dos achados que relatam 10% de recorrência familiar em gêmeos dizigóticos. Esse resultado fornece evidências de possíveis fatores neurogenéticos para explicar a ocorrência de TGD nos familiares dos probandos estudados e salienta a necessidade de efetuar o rastreamento desse transtorno não só na criança avaliada, mas também em seus irmãos. Descritores: Irmãos, genética, transtornos do espectro do autismo. AbstractPervasive developmental disorders (PDD) are characterized by comprehensive and qualitative abnormalities affecting three areas of development: reciprocal social interaction, communication, and a repetitive, stereotyped behavioral repertoire, of limited interests. Genetic studies have identified the recurrence of PDD in the same family. The present study aimed to trace the occurrence of signs and symptoms of PDD in the siblings of patients with this diagnosis. The study included 25 subjects from 19 families. Data collection was performed using the Brazilian version of the Autism Screening Questionnaire (ASQ). Two cases of PDD in siblings were confirmed (10.52% of cases): a monozygotic twin brother and the brother of a proband with a diagnosis of Asperger syndrome. Our data indicate higher rates of PDD in siblings than described in the literature (2-6%), close to the findings that suggest a 10% rate of familial recurrence in dizygotic twins. This result provides evidence of possible neurogenetic factors to explain the occurrence of PDD in relatives of the probands assessed and underscores the need to screen not only the child under evaluation, but also their siblings.

show abstract

Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders

Cited by 6 publications

References 25 publications

Research Article Molecular Diagnosis of X-Fragile Syndrome: Perspectives for the Public Health System in the Central Region of Brazil

Research Article Molecular Diagnosis of X-Fragile Syndrome: Perspectives for the Public Health System in the Central Region of Brazil

Molecular analysis of patients suspected of Fragile X Syndrome

Rastreamento de sinais e sintomas de transtornos do espectro do autismo em irmãos

Contact Info

Product

Resources

About