An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis

Yoon, Jihoon G.; Shin, Saeam; Jung, Jo Won; Lee, Seung Tae; Choi, Jong Rak

doi:10.3343/alm.2016.36.2.194

Cited by 5 publications

(6 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Clinically 22q11.2 deletions and 14pter-q12~13 duplications share common features including developmental delay, mild dysmorphic features, recurrent infections and congenital heart disease (CHD) Table I. 6,10,[12][13]15 Aside from CHD absent in patient 1, the 2 patients shared the aforementioned features. Our patients showed phenotypic variability previously reported in patients exhibiting 22q11.2 deletions.…”

Section: Discussionmentioning

confidence: 99%

Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome

et al. 2019

View full text Add to dashboard Cite

We report the clinical and genetic characterization of 2 cousins sharing the same chromosomal anomaly; a 22pter-q11.2 deletion and a 14pter-q13 duplication due to an unusual familial reciprocal non robertsonian translocation between 2 acrocentric chromosomes t(14;22)(q13;q11.2), the mother of patient 1 was the first cousin of the father of patient 2. Fluorescent in situ hybridization confirmed the cytogenetic results. The patients showed dysmorphic features and developmental delay with evident intrafamilial phenotypic variability. Reciprocal non robertsonian translocation is a rare event, and has not been reported in patients with 22q11.2 deletions. The mechanism responsible for this rare type of translocation is discussed herein.

show abstract

Section: Discussionmentioning

confidence: 99%

Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Also, HSP90AA1 is located on chromosome 14q32.31, and is one of the most abundant proteins in cardiac cells. Recently, a duplication on chromosome 14q in a case with multiple cardiac anomalies and clubfoot was identified [121]. This suggests the possibility that deregulation of these two genes may be involved in cardiac anomalies in CD patients.…”

Section: Amn and Hsp90aa1 Are Involved In Cardiac Anomaliesmentioning

confidence: 98%

Extraintestinal manifestations of celiac disease: 33‐mer gliadin binding to glutamate receptor GRINA as a new explanation

García-Quintanilla

Miranzo-Navarro

2016

BioEssays

View full text Add to dashboard Cite

We propose a biochemical mechanism for celiac disease and non-celiac gluten sensitivity that may rationalize many of the extradigestive disorders not explained by the current immunogenetic model. Our hypothesis is based on the homology between the 33-mer gliadin peptide and a component of the NMDA glutamate receptor ion channel - the human GRINA protein - using BLASTP software. Based on this homology the 33-mer may act as a natural antagonist interfering with the normal interactions of GRINA and its partners. The theory is supported by numerous independent data from the literature, and provides a mechanistic link with otherwise unrelated disorders, such as cleft lip and palate, thyroid dysfunction, restless legs syndrome, depression, ataxia, hearing loss, fibromyalgia, dermatitis herpetiformis, schizophrenia, toxoplasmosis, anemia, osteopenia, Fabry disease, Barret's adenocarcinoma, neuroblastoma, urinary incontinence, recurrent miscarriage, cardiac anomalies, reduced risk of breast cancer, stiff person syndrome, etc. The hypothesis also anticipates better animal models, and has the potential to open new avenues of research.

show abstract

“…There are less reports on FOXG1 duplications [4,12,17,18,19,20,21,23,25,63]. Nevertheless, individuals with FOXG1 duplication have much distinct features, such as epilepsy, movement disorders, head circumference, and brain MRI abnormality, distinguishable from those of FOXG1 deletions/intragenic mutations.…”

Section: Clinical Features Of Foxg1-related Syndromementioning

confidence: 99%

“…The mutations were typically de novo and were mostly identified via comparative genomic hybridization array. The duplications ranged 3.1–33.9 Mb on 14q, encompassing the FOXG1 (Table 2) [4,12,17,18,19,20,21,23,25,63,64]. However, genotype–phenotype correlation cannot be well described due to limited case numbers.…”

Section: Clinical Features Of Foxg1-related Syndromementioning

confidence: 99%

FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms

Wong

Singh

Wang

et al. 2019

IJMS

View full text Add to dashboard Cite

Individuals with mutations in forkhead box G1 (FOXG1) belong to a distinct clinical entity, termed “FOXG1-related encephalopathy”. There are two clinical phenotypes/syndromes identified in FOXG1-related encephalopathy, duplications and deletions/intragenic mutations. In children with deletions or intragenic mutations of FOXG1, the recognized clinical features include microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation. In contrast, children with duplications of FOXG1 are typically normocephalic and have normal brain magnetic resonance imaging. They also have different clinical characteristics in terms of epilepsy, movement disorders, and neurodevelopment compared with children with deletions or intragenic mutations. FOXG1 is a transcriptional factor. It is expressed mainly in the telencephalon and plays a pleiotropic role in the development of the brain. It is a key player in development and territorial specification of the anterior brain. In addition, it maintains the expansion of the neural proliferating pool, and also regulates the pace of neocortical neuronogenic progression. It also facilitates cortical layer and corpus callosum formation. Furthermore, it promotes dendrite elongation and maintains neural plasticity, including dendritic arborization and spine densities in mature neurons. In this review, we summarize the clinical features, molecular genetics, and possible pathogenesis of FOXG1-related syndrome.

show abstract

An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis

Cited by 5 publications

References 7 publications

Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome

Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome

Extraintestinal manifestations of celiac disease: 33‐mer gliadin binding to glutamate receptor GRINA as a new explanation

FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms

Contact Info

Product

Resources

About