scholarly journals Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13

2019 ◽  
Vol 7 ◽  
Author(s):  
Monika Nováková ◽  
Marek Hampl ◽  
Dávid Vrábel ◽  
Jan Procházka ◽  
Silvia Petrezselyová ◽  
...  
Keyword(s):  
Mouse Model ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Developmental Disorders ◽  
Heart Defects ◽  
Facial Features

Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

2016 ◽  
Vol 148 (1) ◽  
pp. 6-13
Author(s):  
Kaihui Zhang ◽  
Fengling Song ◽  
Dongdong Zhang ◽  
Yong Liu ◽  
Haiyan Zhang ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Whole Genome Microarray ◽  
Available Information ◽  
3P Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

scholarly journals Mediating ERK1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome

2007 ◽  
Vol 117 (8) ◽  
pp. 2123-2132 ◽  
Author(s):  
Tomoki Nakamura ◽  
Melissa Colbert ◽  
Maike Krenz ◽  
Jeffery D. Molkentin ◽  
Harvey S. Hahn ◽  
...  
Keyword(s):  
Mouse Model ◽  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects

scholarly journals Fetal Alcohol Spectrum Disorder: Risk for Diabetes and Congenital Heart Defects

2018 ◽  
Vol 2 (1) ◽  
pp. 48-55
Author(s):  
Jenny Salmon
Keyword(s):  
Congenital Heart Defects ◽  
Fetal Alcohol Spectrum Disorder ◽  
Congenital Heart ◽  
Heart Defects ◽  
Alcohol Exposure ◽  
Spectrum Disorder ◽  
Facial Features ◽  
Fetal Alcohol ◽  
Prenatal Alcohol ◽  
Fetal Alcohol Spectrum

Excessive use of alcohol can be a cause for many disease and injury conditions. These include amongst many others, myocardial infarction, diabetes mellitus, atrial fibrillation, nonischaemic cardiomyopathy, fetal alcohol spectrum disorder (FASD), congenital heart defects (CHD) and liver cirrhosis. Even low levels of prenatal alcohol  ethanol) exposure, such as in a single dose, can produce birth defects termed fetal alcohol syndrome (FAS) which is the highest marker on the spectrum. Diabetes is regarded as a major cause of cardiovascular disease whilst prenatal alcohol exposure (PAE) can range from no observable adverse effects to mortality. CHD are stated to be the most prevalent cause of mortality in individuals with FASD. The dimension of the problems is still greatest in the Western world although it is stated to be the leading cause of mental retardation in North America. FASD is a neurodevelopmental disability which can be occasioned when a pregnant woman consumes alcohol. The diagnostic  criteria for FASD includes growth impairment, abnormal facial features and neurocognitive impairments. The most frequently reported abnormal facial features in FASD are thin upper lip, indistinct or smooth philtrum and short palpebral fissure length. Other features are microganthia, low set ears, ptosis, absent or indistinct philtral ridge, epicanthal folds, cleft palate, flat nasal bridge and midface hypoplasia. The neurocognitive features commonly reported in FASD are microcephaly, intellectual disability, attention-deficit hyperactivity disorder (ADHD) and behavioural impairments. Central nervous system (CNS) injury is also seen and is debilitating. Structural abnormalities of the CNS can include microcephaly, agenesis/absence of the corpus callosum and multiple severe brain malformations. This review article seeks to address the association of FASD with diabetes and CHD.

scholarly journals Congenitalis vitiumok genetikai heterogenitása és komplexitása

2018 ◽  
Vol 159 (17) ◽  
pp. 661-670
Author(s):  
Dóra Nagy ◽  
Márta Széll
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Developmental Disorders ◽  
Isolated Heart ◽  
Heart Defects ◽  
Molecular Genetic ◽  
Genetic Alterations ◽  
Reproductive Age ◽  
Number Of Patients ◽  
Monogenic Diseases

Abstract: Congenital heart defects are the most common birth defects, they account for approximately one third of all cases. They are clinically heterogeneous, vary widely in severity, treatability and prognosis and may occur as part of multiple developmental disorders, such as chromosome aberrations, microdeletion syndromes and monogenic diseases, or as isolated defects. Syndromic forms account for 25–40%, isolated forms for 60–75% of all cases. With conventional cytogenetic and next-generation molecular genetic methods, numerous genetic alterations have been identified in evolutionarily highly conserved genes of transcriptional regulators, signaling molecules and structural proteins, which are critical to normal cardiogenesis, mostly in cases with syndromic congenital heart defects. On the other hand, the genetic cause can be detected only in around 11% of isolated heart defects. The survival rate and life quality of patients with congenital heart defects have improved significantly in the last decades thanks to the remarkable development of prenatal, postnatal diagnostics as well as of heart and thoracic surgery of cardiovascular diseases. Since the number of patients, living into adulthood and reproductive age, is constantly increasing, the better understanding of the genetics of congenital heart defects may be crucial for the diagnosis, prognosis and positive family planning of patients. Orv Hetil. 2018; 159(17): 661–670.

scholarly journals Investigating the Origins of Congenital Heart Defects in a Mouse Model of Cornelia de Lange Syndrome

2019 ◽  
Vol 33 (S1) ◽  
Author(s):  
Rosaysela Santos ◽  
Martha E Lopez‐Burks ◽  
Louise A Villagomez ◽  
Brian Bui ◽  
Arthur D lander ◽  
...  
Keyword(s):  
Mouse Model ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay

2016 ◽  
Vol 150 (2) ◽  
pp. 112-117 ◽  
Author(s):  
Liyang Liang ◽  
Yingjun Xie ◽  
Yiping Shen ◽  
Qibin Yin ◽  
Haiming Yuan
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Chromosomal Microarray Analysis ◽  
Limb Anomalies ◽  
Interstitial Duplication

Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome.

scholarly journals A Rare Mutation In Noonan Syndrome

2020 ◽  
Vol 7 (3) ◽  
pp. 1-4
Author(s):  
Vasco Carvalho ◽  
Keyword(s):  
Short Stature ◽  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Facial Features ◽  
Rare Mutation ◽  
Live Births ◽  
Increased Risk

Noonan Syndrome (NS) is a genetic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. The incidence is estimated to be between 1:1000 and 1:2500 live births. Mutations in PTPN11 (12q24.13) are seen in 50% of cases.

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