Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome

Lania, Gabriella; Bresciani, Alberto; Bisbocci, Monica; Francone, Alessandra; Colonna, Vincenza; Altamura, Sergio; Baldini, Antonio

doi:10.1093/hmg/ddw267

Cited by 16 publications

(19 citation statements)

References 23 publications

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“…Mice under-expressing Tbx1 recapitulate the 22q11.2 deletion phenotype [ 8 ]. It is noteworthy that vitamin B12 is one of two compounds identified in high throughput screening that upregulates Tbx1 expression and rescues the 22q11.2 deletion phenotype in mice [ 9 ], which is consistent with our findings in the patient.…”

Section: Discussionsupporting

confidence: 90%

Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome

Jones

Banerjee

Smith

et al. 2017

Oxford Medical Case Reports

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A 19-year-old male with 22q11.2 deletion syndrome presented with a 4-year history of cognitive decline and symptoms suggestive of atypical psychosis. Potential for elevated homocysteine and NMDA-receptor antibodies in the pathogenesis of his symptoms was investigated. He had elevated blood homocysteine level (18.7 μmol/l), low-normal vitamin B12 and folate levels and was positive for NMDA-receptor antibodies. Treatment with daily folinic acid (0.8 mg) and vitamin B12 (1 mg) led to dramatic improvement in his cognitive and behavioural presentation. Subsequent plasma exchange resulted in a further, significant clinical improvement. Homocysteine levels and NMDA-R antibodies should be investigated as potential causes of behavioural and cognitive symptoms in patients with 22q11.2 deletion syndrome.

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Section: Discussionsupporting

confidence: 90%

Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome

Jones

Banerjee

Smith

et al. 2017

Oxford Medical Case Reports

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“…In particular, it demonstrated that vitamin B12 treatment partially rescued pharyngeal arch artery defects. These findings aroused hope for potential pharmacological strategies that could compensate for developmental defects in patients with 22q11.2DS (Lania et al, 2016). …”

Section: Genes and Pathogenesis Of The Cardiovascular Phenotypementioning

confidence: 99%

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers

Unolt

Versacci

Anaclerio

et al. 2018

American J of Med Genetics Pt A

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Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of clinical diagnosis of 22q11.2 deletion syndrome (22q11.2DS) and still represent the main cause of mortality in the affected children. In the past 30 years, much progress has been made in describing the anatomical patterns of CHD, in improving their diagnosis, medical treatment, and surgical procedures for these conditions, as well as in understanding the underlying genetic and developmental mechanisms. However, further studies are still needed to better determine the true prevalence of CHDs in 22q11.2DS, including data from prenatal studies and on the adult population, to further clarify the genetic mechanisms behind the high variability of phenotypic expression of 22q11.2DS, and to fully understand the mechanism responsible for the increased postoperative morbidity and for the premature death of these patients. Moreover, the increased life expectancy of persons with 22q11.2DS allowed the expansion of the adult population that poses new challenges for clinicians such as acquired cardiovascular problems and complexity related to multisystemic comorbidity. In this review, we provide a comprehensive review of the existing literature about 22q11.2DS in order to summarize the knowledge gained in the past years of clinical experience and research, as well as to identify the remaining gaps in comprehension of this syndrome and the possible future research directions.

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“…In the second case, because, although it has been shown that there is a low prevalence of growth hormone deficiency in 22q11.2DS individuals, those patients with this endocrine disorder treated with growth hormone show growth improvement [36], even when an adequate dietary intake showed no results [71]. In the last case, given that CHD is commonly observed in patients and a recent study shows promising results that suggest that the embryonic treatment using vitamin B12 ameliorates Tbx1 gene haploinsufficiency in mice [72]. This latter result could be relevant for the population analyzed in the present study, since CHD was highly prevalent (91.9%) in patients, as it has been reported in a previous study of Mexican patients [73].…”

Section: Discussionmentioning

confidence: 99%

Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome

Farrera¹,

Villanueva²,

Vizcaíno

et al. 2019

Head Face Med

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Background22q11.2 deletion syndrome is a medical condition that results from genomic loss at chromosome 22. Affected patients exhibit large variability that ranges from a severe condition to mild symptoms. In addition, the spectrum of clinical features differs among populations and even within family members. The facial features related to this syndrome are not an exception, and although part of its variation arises through development, few studies address this topic in order to understand the intra and inter-population heterogeneities. Here, we analyze the ontogenetic dynamics of facial morphology of Mexican patients with del22q11.2 syndrome.MethodsFrontal facial photographs of 37 patients (mean age = 7.65 ± 4.21 SE) with del22q11.2DS and 200 control subjects (mean age = 7.69 ± 4.26 SE) were analyzed using geometric morphometric methods. Overall mean shape and size differences between patients and controls were analyzed, as well as differences in ontogenetic trajectories (i.e. development, growth, and allometry).ResultsWe found that Mexican patients show typical traits that have been reported for the Caucasian population. Additionally, there were significant differences between groups in the facial shape and size when all the ontogenetic stages were considered together and, along ontogeny. The developmental and allometric trajectories of patients and controls were similar, but they differed in allometric scaling. Finally, patients and controls showed different growth trajectories.ConclusionThe results suggest that the typical face of patients with del22q11.2DS is established prenatally; nonetheless, the postnatal ontogeny could influence the dysmorphology and its variability through size-related changes.

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Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome

Cited by 16 publications

References 23 publications

Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome

Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers

Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome

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