Stickler syndrome associated with epilepsy: report of three cases

Savasta, Salvatore; Salpietro, Vincenzo; Spartà, Maria Valentina; Foiadelli, Thomas; Laino, Daniela; Lobefalo, L.; Marseglia, Gian Luigi; Verrotti, Alberto

doi:10.1007/s00431-015-2514-8

Cited by 9 publications

(3 citation statements)

References 14 publications

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“…After TGP sequencing or WES, pathogenic mutations were detected in 35 families (83%), including 27 (64%) with COL2A1 and 8 (19%) with COL11A1 mutations ( Table 2 , Figure 2 and Figure 3 A), all in the heterozygous state ( Table 2 , Figure 2 and Figure 3 A). A total of 23 mutations, 11 known mutations [ 12 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 ] and 12 novel mutations, were detected in COL2A1 . These mutations were distributed among the exons with no mutation hot spots ( Figure 4 ).…”

Section: Resultsmentioning

confidence: 99%

Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment

Huang

Chen

Wang

et al. 2020

Genes

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Stickler syndrome is a connective tissue disorder that affects multiple systems, including the visual system. Seven genes were reported to cause Stickler syndrome in patients with different phenotypes. In this study, we aimed to evaluate the mutation features of the phenotypes of high myopia and retinal detachment. Forty-two probands diagnosed with Stickler syndrome were included. Comprehensive ocular examinations were performed. A targeted gene panel test or whole exome sequencing was used to detect the mutations, and Sanger sequencing was conducted for verification and segregation analysis. Among the 42 probands, 32 (76%) presented with high myopia and 29 (69%), with retinal detachment. Pathogenic mutations were detected in 35 (83%) probands: 27 (64%) probands had COL2A1 mutations, and eight (19%) probands had COL11A1 mutations. Truncational mutations in COL2A1 were present in 21 (78%) probands. Missense mutations in COL2A1 were present in six probands, five of which presented with retinal detachment. De novo COL2A1 mutations were detected in 10 (37%) probands, with a mean paternal childbearing age of 29.64 ± 4.97 years old. The mutation features of probands with high myopia or retinal detachment showed that the probands had a high prevalence of COL2A1 mutations, truncational mutations, and de novo mutations.

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Section: Resultsmentioning

confidence: 99%

Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment

Huang

Chen

Wang

et al. 2020

Genes

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“…A artro-oftalmopatia hereditária ou síndrome de stickler (SS) é uma colagenopatia geneticamente heterogênea caracterizada por anormalidade esqueléticas, anomalias orofaciais, perda auditiva,osteoartrite prematura, perda neurossensorial, hipoplasia da face média, fenda palatina, miopia grave e cegueira (SAVASTA et al, 2015;.…”

Section: Discussionunclassified

Síndrome de Stickler

Oliveira¹,

Oliveira²,

Ramos³

et al. 2022

Braz. J. Hea. Rev.

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INTRODUÇÃO: A Síndrome Stickler é uma colagenopatia, rara, hereditária e caráter autossômica dominante, sua incidência é de 1/7500 nascimentos. APRESENTAÇÃO CASO: GPS, sexo masculino, 5 anos, admitido no Hospital das Clínicas de Goiânia, portador de miopia importante e fissura palatina desde o nascimento, queixava-se de baixa acuidade visual há 3meses. Durante a inspeção, foram evidenciados face plana, maxilar curto, olhos proeminentes e pregas epicantais. DISCUSSÃO: A síndrome é caracterizada por um artro-oftalmopatia, ou seja, anormalidades esqueléticas, anomalias orofaciais, perda auditiva, osteoartrite prematura, perda neuro-sensorial,fenda palatina, miopatia grave e cegueira. É classificada de acordo com a mutação em Tipo I, II e III. CONCLUSÃO: Por se tratar de uma síndrome genética rara, é de difícil diagnóstico, necessita de uma análise fenotípica, um quadro clínico favorável e história familiar. Não existe um tratamento curativo. Portanto, quanto mais precoce seu diagnóstico, a intervenção será mais rápida e melhor será o prognóstico.

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“…A possible explanation of this association may be related to the fact that collagen plays an important role in neurological growth, migration, metabolism and differentiation [7]. A further evidence supporting this hypothesis is that seizures also occurred in three reported cases of patients affected by Stickler syndrome (STL), another connective tissue disorder [8]. Moreover, it has also been demonstrated the interaction between epidermal growth factor and the ECM is needed for the differentiation of cortical neurons [9].…”

Section: Eds and Epilepsymentioning

confidence: 95%

Ehlers-Danlos syndromes and epilepsy: An updated review

Cortini

Clara

2018

Seizure

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The Ehlers-Danlos syndromes (EDS) comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs), characterised by joint hypermobility, hyperextensibility of the skin and tissue fragility that can induce symptoms from multiple organ systems. The latest EDS nosology distinguished thirteen subtypes with an overlap of phenotypic features, making the clinical diagnosis rather difficult and highlighting the importance of molecular diagnostic confirmation. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been focused on neurological manifestations of EDS. Among them, epilepsy represents a frequent cause of morbidity in these syndromes and can influence the long-term evolution of these patients, but the mechanisms are needed to be clarified. The aim of this review is to give a comprehensive overview and to analyze a possible association between EDS and epilepsy, focusing on the various brain anomalies and the types of epilepsy reported in patients affected by EDS.

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Stickler syndrome associated with epilepsy: report of three cases

Cited by 9 publications

References 14 publications

Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment

Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment

Síndrome de Stickler

Ehlers-Danlos syndromes and epilepsy: An updated review

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