Relato de um paciente brasileiro com síndrome de Wolfram

Zen, Paulo Ricardo Gazzola; Pinto, Louise Lapagesse de Camargo; Schwartz, Ida Vanessa Döederlein; Barrett, Timothy; Paskulin, Giorgio Adriano

doi:10.1590/s0021-75572002000600015

Cited by 3 publications

(2 citation statements)

References 8 publications

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“…4 We draw attention to the fact that the WFS1 gene is also located in this region and determines the Wolfram syndrome (WS, OMIM 2223000), 1 which is an autosomal recessive condition also referred to as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). 6,7 Occurrences of diabetes mellitus and optic atrophy together is sufficient for diagnosing WS. 6,7 However, until the latest assessment of our patient, at the age of 22 years, only the DM was observed, which would be not expected for a patient with WS (usually, patients with WS present optic atrophy before the age of 19 years).…”

Section: 4mentioning

confidence: 99%

“…6,7 Occurrences of diabetes mellitus and optic atrophy together is sufficient for diagnosing WS. 6,7 However, until the latest assessment of our patient, at the age of 22 years, only the DM was observed, which would be not expected for a patient with WS (usually, patients with WS present optic atrophy before the age of 19 years). of all cases of diabetes, and susceptibility to this is considered to be largely inherited, residing especially in the HLA genotypes DR and DQ.…”

Section: 4mentioning

confidence: 99%

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Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Graziadio

Bernardi²,

Rosa³

et al. 2012

Sao Paulo Med. J.

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CONTEXT: Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease. CASE REPORT: The patient was a 22-year-old Caucasian man, the third child of consanguineous parents. He received the diagnosis of insulin-dependent diabetes mellitus (DM) at 16 years of age, and around one year later, he underwent surgery to correct a partial atrioventricular septal defect. Upon physical examination, at 22 years of age, he presented stature of 145.5 cm (P3), weight of 49 kg (P3), head circumference of 54 cm (P2-50), high palate, absence of one of the lower lateral incisor teeth, narrow shoulders, narrowing of the upper thorax, scoliosis, rhizomelic shortening of the upper limbs, brachydactyly, postaxial polydactyly and clinodactyly of the second and third fingers. The lower limbs showed rhizomelic shortening with significant genu valgum (knock-knee deformity), small feet with postaxial polydactyly, syndactyly between the second and third toes and hallux valgus. Multiple melanocytic nevi were evident on the face, thorax and limbs. At that time, he was using neutral protamine Hagedorn (NPH) insulin, with poorly controlled DM. The clinical findings presented led to the diagnosis of EVC syndrome. Only one case of this syndrome has been described with DM so far. Attention is drawn to the fact that the genes associated with this syndrome are located close to those of the Wolfram syndrome, a condition that leads to early-onset diabetes.resUMo CONTEXTO: A síndrome de Ellis-van Creveld (EVC) é uma doença autossômica recessiva rara, caracterizada por baixa estatura desproporcionada, tórax estreito, polidactilia pós-axial, anormalidades em unhas e dentes e cardiopatia congênita. RELATO DO CASO: O paciente é um rapaz caucasiano de 22 anos, o terceiro filho de pais consanguíneos. Recebeu diagnóstico de diabetes melito (DM) insulino-dependente aos 16 anos, sendo que, cerca de um ano depois, foi submetido a cirurgia cardíaca de correção de defeito de septo atrioventricular parcial. Ao exame físico, aos 22 anos, ele apresentava estatura de 145,5 cm (P3), peso de 49 kg (P3), perímetro cefálico de 54 cm (P2-50), palato alto, ausência de um dos dentes incisivos inferiores laterais, ombros estreitos, estreitamento do tórax superior, escoliose, encurtamento rizomélico dos membros superiores, braquidactilia, polidactilia pós-axial e clinodactilia dos segundo e terceiro dedos. Nos membros inferiores, observava-se encurtamento rizomélico com importante geno valgo (deformidade dos joelhos-batidos), pés pequenos com polidactlia pós-axial, sindactilia entre segundo e terceiro dedos, e háluces valgos. Múl-tiplos nevos melanocíticos eram evidentes na face, tórax e membros. Neste momento ele está em uso de insulina NPH (neutral protamine Hagedorn), com um controle inadequado do DM. Seus achados clínicos levaram ao diagnóstico de síndrome de EVC. Apenas um caso desta síndrome foi descrito com DM ...

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Section: 4mentioning

confidence: 99%

Section: 4mentioning

confidence: 99%

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Graziadio

Bernardi²,

Rosa³

et al. 2012

Sao Paulo Med. J.

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An evaluation of genetic causes and environmental risks for bilateral optic atrophy

et al. 2019

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PurposeTo assess the clinical utility of next-generation sequencing (NGS) for the diagnosis of patients with optic atrophy (OA).DesignRetrospective cohort study.Methods97 patients were referred to the McMaster University Medical Center (Hamilton, Ontario) for evaluation of bilateral OA. All patients were sent for NGS including a 22 nuclear gene panel and/or complete mitochondrial DNA (mtDNA) sequencing. Positive genetic test results and abnormal vibration sensation were compared in patients +/- environmental exposures or a family history.Results19/94 (20.2%) had a positive nuclear variant, of which 15/19 (78.9%) were in the OPA1 gene. No positive mtDNA variants were identified. The detection of a positive genetic variant was significantly different in patients who reported excessive ethanol use, but not in patients who smoke (0/19 (0%) vs. 19/78 (24.4%), P = 0.0164 and 4/22 (18.2%) vs. 15/74 (20.3%), P = 0.829, respectively). Patients with a positive family history were more likely to have a positive genetic variant compared to patients with a negative family history (P = 0.0112). There were significantly more excessive drinkers with an abnormal vibration sensation (P = 0.026), and with a similar trend in smokers (P = 0.074).ConclusionsAll positive genetic variants were identified in nuclear genes. We identified a potential independent pathophysiological link between a history of excessive ethanol consumption and bilateral OA. Further investigations should evaluate and identify potential environmental risk factors for OA.

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Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome

Gasparin

Crispim

Paula

et al. 2009

European Journal of Endocrinology

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Objective: Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder with an autosomal recessive pattern of inheritance. The gene for WS, WFS1, was identified on chromosome 4p16 and most WS patients carry mutations in this gene. However, some studies have provided evidence for genetic heterogeneity and the genotype-phenotype relationships are not clear. Our aim was to ascertain the spectrum of WFS1 mutations in Brazilian patients with WS and to examine the phenotype-genotype relationships in these patients. Design and methods: Clinical characterization and analyses of the WFS1 gene were performed in 27 Brazilian patients with WS from 19 families. Results: We identified 15 different mutations in the WFS1 gene in 26 patients, among which nine are novel. All mutations occurred in exon 8, except for one missense mutation which was located in exon 5. Although we did not find any clear phenotype-genotype relationship in patients with mutations in exon 8, the homozygous missense mutation in exon 5 was associated with a mild phenotype: onset of diabetes mellitus and optic atrophy during adulthood with good metabolic control being achieved with low doses of sulfonylurea. Conclusions: Our data show that WFS1 is the major gene involved in WS in Brazilian patients and most mutations are concentrated in exon 8. Also, our study increases the spectrum of WFS1 mutations. Although no clear phenotype-genotype relationship was found for mutations in exon 8, a mild phenotype was associated with a homozygous missense mutation in exon 5.

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Relato de um paciente brasileiro com síndrome de Wolfram

Cited by 3 publications

References 8 publications

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

An evaluation of genetic causes and environmental risks for bilateral optic atrophy

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome

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