All NS-ARMR patients show similar mental retardation clinical phenotypes ranging from moderate to severe. Clinical phenotypes associated with NS-ARMR include but not limited to moderate to severe MR, and variable postnatal microcephaly. Mild facial dysmorphism and truncal obesity was reported for Tunisian brothers otherwise no facial dysmorphism was reported in Pakistani, nor the Israeli Arab nor the Iranian patients. Phenotypes associated with TRAPPC9 mutations are consistently associated with postnatal microcephaly, speech delay and neuroradiologial abnormality of the cerebral white matter, corpus callosum and cerebellum99, peculiar facial appearance, obesity, hypotonia143. MRI findings show diminished cerebral white matter volume, with sulcal enlargement, thinning of corpus callosum and mild cerebellar volume loss.…
Abstract Introduction A 2-year and 7-month-old girl is undergoing several treatments to attenuate the effects of type 2 Gaucher disease on her health. She has been diagnosed with type 2 Gaucher disease since she was three months old and several symptoms have appeared during that short lap of time. Case presentation In a type 2 Gaucher disease patient, the lysosomal enzyme β-glucocerebrosidase undergoes mutation and is therefore unable to break down glucocerebroside into ceramide and glucose.…
Humans may experience daily exposure to genotoxic chemicals. Exposure to these genotoxic chemicals is often inevitable because they can be found in any environment, from an individual’s home to his or her workplace. The exposure to genotoxic chemicals can eventually lead to high levels of DNA damage, which has been suspected of causing cancer. The DNA damage caused by these chemicals can be measured by sister chromatid exchange. Sister chromatid exchange is a sensitive biomarker that is used to detect DNA damage due to genotoxic chemicals.…
In 1965 Harry Angelman reported clinical findings in three children with similar, unusual, attributes. These children had what was known as “happy puppet” syndrome, but was later changed to Angelman syndrome, due to its pejorative name. Angelman syndrome is a neurodevelopmental disorder distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and the skin with blue eyes, subtle dysmorphic facial features, and happy and excitable dispositions which happen to be the most prominent of all these attributes. For over twenty years there was no known initial cause that could be identified; however in 1987 Magenis identified a deletion of chromosome 15q11-13 in two patients…
"Recognizing the genetic factors that cause this complex disorder is a very important step in better understanding and treating its different manifestations." The scientists collected data from over 1,000 individuals with autism that tend to carry more submicroscopic insertions and deletions called copy number variants in their genome. The copy number variants are inherited ad some were only found in the child and not the parents.…
Advances in genetic tools has helped to discover multiple cytogenetic tests which can detect copy number variations which associates with neurodevelopmental disorders. These includes microarrays and next-generation sequencing (NGS)17. Rare copy number variations are common in patients with neurodevelopmental such as epilepsy18,19, intellectual disability20,21 and autism spectrum disorders22,23. Furthermore, rare copy number variations are more prevalent in patients with neurodevelopmental disorders that concurs with multiple congenital anomalies (MCA) such as facial dysmorphism, skeletal malformations, congenital heart diseases and corpus callosum dysplasia24,25. These multiple congenital anomalies have been reported as predictors in isolated/combined neurodevelopmental disorders.…
Cri du Chat syndrome is a rare genetic disorder that is caused by deletion of the small arm in chromosome 5. This is an example of unbalanced translocation, which is involved in the development of birth defects and or health problems. As of today, there is no known cause for this case of unbalanced translocation.…
Living in South Florida, I have been blessed with the opportunity to learn from a wide array of cultures and people. It wasn’t until my preteen years that I met a person who would ultimately leave a mark on me for the rest of my life. Brody, my little cousin who is now eight years old, stands out from the other boys his age. When he was born, he was completely unable to open his eyes. Shortly after his birth, the doctors found a small hole in his heart.…
I followed my heart to get into healthcare profession and worked very hard in my Alevels to get straight A’s and high score in UKCAT but being new in this country and not knowing the system very well I was still behind in the competition from others. I was fortunate enough to make to interviews but I couldn’t avail the opportunity at my best and I couldn’t express my love for this field as I could. Being rejected from healthcare; I accepted this to be my destiny and accepted Scholarship for MSc Engineering. Being good at studies, I passed my first year with good grades but with a heavy heart.…
Background Neurodevelopment is defined as “the dynamic inter-relationship between genetic, brain, cognitive, emotional, and behavioral processes across the developmental lifespan [1].” Neurodevelopmental disorders are defined as a group of conditions caused by damage to the neurological development process which cause long term delays in development. These disorders normally begin in infancy, when development is most crucial, and remain fairly consistent throughout adulthood. Neurodevelopmental disorders include but are not limited to the following: autism spectrum disorder (ASD), Rett Syndrome (RTT), developmental coordination disorder (DCD), cerebral palsy, intellectual disabilities (ID), attention-deficit/hyperactivity disorder (ADHD),…
The researchers of this article studied the GLI3 protein, which is a zinc fingered protein and encoded in humans. It is a copy of GLI family and is translocated in patients who possess the Greig cephalopolysyndactyly syndrome─GCPS. The mutation of the GLI3 protein is shown to cause various disorders such as, Pallister-Hall syndrome and postaxial polydactyl type A. The researchers were trying to demonstrate how a single gene mutation could cause these dissimilar developmental disorders in humans. Even though all three disorders can be caused by frameshift mutations, they do differentiate.…
My claim was that memory foam would be the best, and I was right. My partners and I made a helmet designs call Chromosome Saver. I uses 1 piece of medium foam, 7 pieces of memory foam, and on 12 pieces thin foam. It is made for football. It is one of the best helmets on the market.…
Fragile X syndrome (FXS) is the most common heritable disease that results in abnormalities in brain development and function, resulting in intellectual disabilities (Brock & Hatton, 2010; Hinton et al. 2013; Tonnsen et al. 2013; Tranfaglia, 2011). It is caused by an excess repetition of 200 or more repeats (Tonnsen et al. 2013) of the CGG nucleotide on the fragile x mental retardation gene (FMR1), reducing and often preventing the production of the fragile x mental retardation protein (FMRP) (Brock & Hatton, 2010; Haessler et al. 2013; Tonnsen et al.…
Researchers have found many genes that are associated with autism. Other researchers have found irregularities in certain parts of the brain. There are even others that have found abnormal serotonin levels in brains of those with autism. That research suggests that there may be a disruption in fetal brain development that is possibly caused by defects in genes that control brain growth. This could be caused by environmental factors that disrupt gene regulation.…
Recombination and mutation are the motivation of evolution. Recombination is critical for repairing DNA lesions and for chromosomal pairing, and exchange during meiosis (Krejci et al. 2012). Recombination does not occur uniformly on the chromosomes of eukaryotes. Meiotic recombination in well studied yeast revealed that non-uniformity of recombination was observed when the frame of reference is an entire chromosome, multigene region and a pair of genes or a small region upstream of a gene (Lichten and Goldman 1995).…