The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome

Rodríguez‐López, Raquel; Pérez, J.M. Carbonell; Balsera, Aránzazu Margallo; Rodríguez, Guillermo Gervasini; Moreno, Trinidad Herrera; Cáceres, Mayte García de; Serrano, Marta González-Carpio; Freijó, Felipe Casanueva; Ruiz, Juan Ramón González; Barros, Francisco; Pérez, P. Méndez; Estévez, Manuela Núñez; Gómez, Enrique Galán

doi:10.1016/j.gene.2012.11.073

Cited by 25 publications

(15 citation statements)

References 21 publications

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“…WAGR syndrome can be subdivided into two syndromes, WAGR and WAGRO. In addition to the typical features of WAGR, WAGRO patients also display obesity . This subdivision of WAGR has been confirmed by molecular evidence because all WAGR patients presenting with deletions in BDNF have obesity .…”

Section: Resultsmentioning

confidence: 99%

A systematic review of genetic syndromes with obesity

et al. 2017

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Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and involves the co-presentation of other characteristics, such as mental retardation, dysmorphic features and organ-specific abnormalities. Previous reviews on obesity have reported 20 to 30 syndromes but no systematic review has yet been conducted on syndromic obesity. We searched seven databases using terms such as 'obesity', 'syndrome' and 'gene' to conduct a systematic review of literature on syndromic obesity. Our literature search identified 13,719 references. After abstract and full-text review, 119 relevant papers were eligible, and 42 papers were identified through additional searches. Our analysis of these 161 papers found that 79 obesity syndromes have been reported in literature. Of the 79 syndromes, 19 have been fully genetically elucidated, 11 have been partially elucidated, 27 have been mapped to a chromosomal region and for the remaining 22, neither the gene(s) nor the chromosomal location(s) have yet been identified. Interestingly, 54.4% of the syndromes have not been assigned a name, whereas 13.9% have more than one name. We report on organizational inconsistencies (e.g. naming discrepancies and syndrome classification) and provide suggestions for improvements. Overall, this review illustrates the need for increased clinical and genetic research on syndromes with obesity.

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Section: Resultsmentioning

confidence: 99%

A systematic review of genetic syndromes with obesity

et al. 2017

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“…With respect to the relationship between structural variation of the BDNF gene and psychopathology, several studies have examined the association of BDNF haploinsufficiency with neurodevelopmental abnormalities in WAGR syndrome caused by 11p13 deletions near the location of the BDNF gene . A certain percentage of patients with WAGR syndrome exhibited deletion of the BDNF gene.…”

Section: Discussionmentioning

confidence: 99%

Structural variation in the glycogen synthase kinase 3β and brain‐derived neurotrophic factor genes in Japanese patients with bipolar disorders

Suga

Yoshimoto²,

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et al. 2019

Neuropsychopharm Rep

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Background Lithium is the first‐line drug for the treatment of bipolar disorders (BDs); however, not all patients responded. Glycogen synthase kinase (GSK) 3β and brain‐derived neurotrophic factor (BDNF) play a role in the therapeutic action of lithium. Since structural variations were reported in these genes, it is possible that these genomic variations may be involved in the therapeutic responses to lithium. Method Fifty patients with BDs and 50 healthy subjects (mean age 55.0 ± 15.0 years; M/F 19/31) participated. We examined structural variation of the GSK3β and BDNF genes by real‐time PCR. We examined the influence of structural variation of these genes on the therapeutic responses to lithium and the occurrence of antidepressant‐emergent affective switch (AEAS). The efficacy of lithium was assessed using the Alda scale, and AEAS was evaluated using Young Mania Rating Scale. Results Although we examined structural variations within intron II and VII of the GSK3® gene and from the end of exon IV to intron IV and within exon IX of the BDNF gene, no structural variation was found in BDs. Whereas 5 of 50 patients exhibited three copies of the genomic region within exon IV of the BDNF gene, all healthy subjects had two copies. No difference in the therapeutic efficacy of lithium was found between patients with three and two copies. No difference in the occurrence of AEAS was found between the two groups. Conclusion The amplification of the BDNF gene influenced neither the therapeutic responses to lithium nor the occurrence of AEAS.

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“…La criptorquidia es uno de los signos importantes que se deben tener en cuenta; su presencia es suficiente para poder indicar que existe compromiso del sistema genitourinario, ya que la frecuencia en la patología es alta (el 65 %). 3,6,7,[10][11][12][13][14][15] Las manifestaciones genitourinarias y oculares del síndrome se atribuyen a hemicigosidad de WT1 y PAX6, respectivamente, pero la etiología del deterioro cognitivo, variable entre los individuos con el síndrome WAGR, no ha sido bien dilucidada. [1][2][3][4][5][6][7][8]12 En este caso, se presentó anormalidad en la videotelemetría sin manifestación clínica compatible con convulsiones y, adicionalmente, se identificó microcefalia.…”

Section: Discussionunclassified

“…Se seleccionaron los artículos en los que el diagnóstico se hiciera con prueba molecular (Tabla 1). 3,7,[10][11][12][13][14][15] Se encontró que la aniridia era el signo más frecuente, con el 95 % del total de pacientes descritos. El tumor de Wilms era la cuarta manifestación en frecuencia (el 56 %); sin embargo, era la que se consideraba de mayor occipitotemporal derecho, por el que se prescribió oxcarbazepina.…”

Section: Caso Clínicounclassified

Síndrome WAGR por deleción en heterocigosis del gen WT1. Caso clínico pediátrico

2019

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Presentación de casos clínicos RESUMENEl síndrome WAGR (tumor de Wilms, aniridia, anomalías genitourinarias y retraso mental) es un trastorno genético infrecuente debido a la deleción de la región 11p13, que contiene los genes WT1 y PAX6. Comprende una combinación distintiva de afecciones clínicas; la aniridia y el tumor de Wilms son las más notables. Se presenta a un lactante de 17 meses con microcefalia, alteraciones oculares (buftalmos, leucocoria, aniridia bilateral), hipoplasia escrotal, testículos en la región inguinal y retraso en el neurodesarrollo, a quien se le realizó el estudio de amplificación de sondas dependiente de ligandos múltiples para WT1, que mostró haploinsuficiencia en las sondas que hibridaban la región 11p13, compatible con una deleción en heterocigosis del gen. Posteriormente, se diagnosticó tumor de Wilms. Dada su baja prevalencia, es importante difundir sus características clínicas y hacer énfasis en un manejo interdisciplinario centrado en la identificación precoz del síndrome y de sus posibles complicaciones. Palabras clave: síndrome WAGR, tumor de Wilms, proteínas WT1, aniridia, anomalías urogenitales.ABSTRACT WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination of clinical conditions, with aniridia and Wilms tumor being the most notable. We present a 17-month-old infant with microcephaly, ocular alterations (buphthalmos, leukocoria, bilateral aniridia), scrotal hypoplasia, undescended testes Síndrome WAGR por deleción en heterocigosis del gen WT1. Caso clínico pediátrico WAGR syndrome by heterozygous deletion of the WT1 gene. Pediatric case report and neurodevelopmental delay who underwent multiplex ligation-dependent probe amplification study for WT1, showing haploinsufficiency in the probes that hybridize to the 11p13 region, compatible with an heterozygous deletion of the gene. Wilms tumor was later diagnosed. WAGR syndrome is infrequent; its report in Latin America is low. It is important to disseminate its clinical characteristics, emphasizing an interdisciplinary management focused on the early identification of both the syndrome and its possible complications.

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The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome

Cited by 25 publications

References 21 publications

A systematic review of genetic syndromes with obesity

A systematic review of genetic syndromes with obesity

Structural variation in the glycogen synthase kinase 3β and brain‐derived neurotrophic factor genes in Japanese patients with bipolar disorders

Síndrome WAGR por deleción en heterocigosis del gen WT1. Caso clínico pediátrico

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