scholarly journals A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity

2021 ◽  
Vol Volume 14 ◽  
pp. 11-22
Author(s):  
Ana Carolina Proença da Fonseca ◽  
Gabriella de Medeiros Abreu ◽  
Lohanna Palhinha ◽  
Verônica Marques Zembrzuski ◽  
Mario Campos Junior ◽  
...  
Keyword(s):  
Pathogenic Variant ◽  
Bdnf Gene ◽  
Childhood Onset ◽  
Brazilian Patient

scholarly journals Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity

2020 ◽  
Vol 11 ◽  
Author(s):  
Kaio Cezar Rodrigues Salum ◽  
Guilherme Orofino de Souza ◽  
Gabriella de Medeiros Abreu ◽  
Mário Campos Junior ◽  
Fabiana Barzotto Kohlrausch ◽  
...  
Keyword(s):  
Body Weight ◽  
Severe Obesity ◽  
Rare Variants ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Loss Of Function ◽  
Coding Region ◽  
Childhood Onset ◽  
Brazilian Patient ◽  
Onset Group

BackgroundThe melanocortinergic pathway orchestrates the energy homeostasis and impairments in this system often lead to an increase in body weight. Rare variants in the melanocortin 4 receptor (MC4R) gene resulting in partial or complete loss of function have been described with autosomal co-dominant inheritance. These mutations are the most common cause of non-syndromic monogenic obesity. In this context, this study aimed to sequence the MC4R gene in a Brazilian cohort of adults with severe obesity.MethodsThis study included 163 unrelated probands with Body Mass Index (BMI) ≥ 35 kg/m2, stratified into three groups, according to the period of obesity onset. From the total sample, 25 patients were enrolled in the childhood-onset group (0–11 years), 19 patients in the adolescence/youth-onset group (12–21 years), and 119 patients in the adult-onset group (>21 years). Blood pressure, anthropometric and biochemical characteristics were obtained, and the MC4R coding region of each subject’s DNA was assessed using automated Sanger sequencing.ResultsSignificant anthropometric differences between the groups were observed. Higher body weight and BMI medians were found in patients with childhood-onset or adolescence/youth-onset when compared to the adulthood-onset obesity group. A total of five mutations were identified, including four missense variants: p.Ser36Thr, p.Val103Ile, p.Ala175Thr, and p.Ile251Leu. Additionally, we observed one synonymous variant (p.Ile198=). The p.Ala175Thr variant was identified in a female case with severe obesity and adulthood-onset. This variant was previously described as a partial loss-of-function mutation, in which the minor allele poses dominant-negative effect, probably resulting in reduced cAMP activity.ConclusionThis study showed a prevalence of common and rare variants in a cohort of Brazilian adults with severe obesity and candidates to bariatric surgery. We have identified a rare potentially pathogenic MC4R variant in a Brazilian patient with severe and adulthood-onset obesity.

A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment

2021 ◽  
Vol 36 (4) ◽  
pp. 581-588
Author(s):  
Yoav Zehavi ◽  
Ann Saada ◽  
Haneen Jabaly-Habib ◽  
Moshe Dessau ◽  
Avraham Shaag ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Optic Atrophy ◽  
De Novo ◽  
Pathogenic Variant ◽  
Childhood Onset

Theta EEG asymmetry and BDNF gene variants in childhood-onset mood disorder

2008 ◽  
Vol 107 ◽  
pp. S65
Author(s):  
J. Kennedy ◽  
J. Strauss ◽  
N. Fox ◽  
C. Barr ◽  
M. Kovacs ◽  
...  
Keyword(s):  
Mood Disorder ◽  
Gene Variants ◽  
Bdnf Gene ◽  
Childhood Onset ◽  
Eeg Asymmetry

Anti-Myelin Oligodendrocyte Glycoprotein Encephalomyelitis and Extensive Longitudinal Transverse Myelitis Associated with Compound Heterozygous NLRP3 Missense Mutations in a Young Child

2020 ◽  
Author(s):  
Deirdre O'Sullivan ◽  
Michael Moore ◽  
Susan Byrne ◽  
Andreas O. Reiff ◽  
Susanna Felsenstein
Keyword(s):  
Young Child ◽  
Genetic Basis ◽  
Transverse Myelitis ◽  
Acute Disseminated Encephalomyelitis ◽  
Myelin Oligodendrocyte Glycoprotein ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Childhood Onset

AbstractAcute disseminated encephalomyelitis in association with extensive longitudinal transverse myelitis is reported in a young child with positive anti-myelin oligodendrocyte glycoprotein (MOG) antibody with heterozygous NLRP3 missense mutations; p.(Arg488Lys) and p.(Ser159Ile). This case may well present an exceptional coincidence, but may describe a yet unrecognized feature of the spectrum of childhood onset cryopyrinopathies that contribute to the understanding of the genetic basis for anti-MOG antibody positive encephalomyelitis. Based on this observation, a larger scale study investigating the role of NLRP3 and other inflammasomes in this entity would provide important pathophysiological insights and potentially novel avenues for treatment.

HIGH DOSE DIAZEPAM (HDD) IN CHILDHOOD-ONSET EPILEPTIC ENCEPHALOPATHIES WITH SLEEP ACTIVATED EEG (EESA_EEG)

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
S Hadjiloizou ◽  
B Bourgeois ◽  
F Duffy ◽  
AM Bergin ◽  
M Takeoka ◽  
...  
Keyword(s):  
High Dose ◽  
Childhood Onset ◽  
Epileptic Encephalopathies
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