Genetic Disorders Linked by Mental Development Impairment by GABRIELLE FERNANDEZ https://padlet.com/glf003/qm94ti88tjevmyx1 BY 328 Gabrielle Fernandez en-us 2021-02-28 00:04:56 UTC 2023-06-13 19:53:51 UTC hello@padlet.com https://padlet.net/icons/png/1f9ec.png Comparing disorders that all have mental impairment as one of their traits/symptoms. glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248903581 2021-02-28 00:07:50 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248903581 Downs Syndrome glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248904779 Chromosomal Disorder 
Trisomy 21- extra chromosome  21 
Resulting in 47 total chromosomes]]> 2021-02-28 00:09:28 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248904779 Clinical Features glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248905465 -Mental Impairment
-Heart Malformations
-Short Stature
-Shortened Life Expectancy
-Visual and Hearing Impairment
-Hormonal and Gastrointestinal Issues]]> 2021-02-28 00:10:18 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248905465 Prevalence in a Population glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248906861 1 in 650-1,000 Livebirths
(Hook, 1982 OMIM)
Change in the risk with maternal age]]> 2021-02-28 00:11:52 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248906861 What is Happening at the Cellular Level? glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248908600 Errors in Meiosis 
In mother's Ova
Meiosis 1 vs Meiosis 2
Mother's age is a factor]]> 2021-02-28 00:14:09 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248908600 Looking even closer.. glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248910675 Observations of partial trisomy 21 and monosomy 21
DS Critical Region?
Amyloid-Beta Protein]]> 2021-02-28 00:16:44 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248910675 Are there any treatments? glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248911423 No cure-all
Therapies, surgeries, and medication that can provide a more comfortable life]]> 2021-02-28 00:17:58 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248911423 Figure 1 glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248940944 Nondisjunction in Meiosis I and II]]> 2021-02-28 01:00:05 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248940944 4 Disorders to be Discussed: glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248942231 1.) Trisomy 21
2.) Alpha Thalassemia
3.) HSD10MD
4.) Huntington's Disease]]> 2021-02-28 01:01:55 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248942231 Alpha Thalassemia glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248945627 Chromosomal Aberration
Gene Deletion or X Chromosome Both types of mutation cause the same phenotype]]> 2021-02-28 01:07:02 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248945627 Gene Deletion glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248950052 Disorder is caused by a mutation in the ATR gene in chromosome 16p that involves the hemoglobin alpha-1  and alpha-2  genes. (OMIM, #301040) OR the same phenotype occurs when ATRX gene on the X chromosome is mutated]]> 2021-02-28 01:13:01 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248950052 Clinical Features glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248952086 Depending on where exactly the mutation occurs, determines the severity of the mental impairment of the individual.
-abnormal genitalia
-Hemoglobin H disease
-Dysmorphic facial features]]> 2021-02-28 01:15:40 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1248952086 Prevalence glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250815088 Common in countries near equator
1 in million in the United States (Farzana, 2015)]]> 2021-02-28 20:54:26 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250815088 What is Happening at the Cellular Level? glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250847340 2 forms:
1.) Mutation of Chromosome 16: ATR 16
-unbalanced translocation/truncation interstitial deletion
2.) Mutation of the X chromosome: ATR X
-mutation in the trans-acting factor which regulates gene expression ( also a deletion) (Gibbons, 1996)

]]> 2021-02-28 21:14:14 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250847340 Causing Mental Impairment? glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250857118 Both the ATR16 gene and ATRX gene are important in brain development as well as alpha-globin regulation and reproductive developments.]]> 2021-02-28 21:19:57 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250857118 Disorders of Sex Development Loci, glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250861399 Sreenivasan, Rajini & Alankarage, Dimuthu & Harley, Vincent. (2017). Disorders of Sex Development Loci. 10.1016]]> 2021-02-28 21:22:52 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250861399 Treatments glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250868725 In mild cases, medications and supplements help with hemoglobin levels.
Blood transfusions are needed in more severe cases (Johns Hopkins, 2018).

]]> 2021-02-28 21:27:29 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250868725 HSD10MD (17-beta-hydroxysteroid dehydrogenase X gene) glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250876624 Mitochondrial Disorder ( X linked hemizygous or heterozygous mutation ( OMIM #300438).]]> 2021-02-28 21:32:31 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250876624 “Alpha Thalassemia.” Johns Hopkins Medicine, www.hopkinsmedicine.org/health/conditions-and-diseases/alpha-thalassemia. glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250878079 2021-02-28 21:33:29 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250878079 Farzana A. Sayani & Janet L. Kwiatkowski (2015) Increasing prevalence of thalassemia in America: Implications for primary care, Annals of Medicine, 47:7, 592-604, DOI: 10.3109/07853890.2015.1091942 glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250879662 2021-02-28 21:34:33 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250879662 Gibbons RJ, Higgs DR. The alpha-thalassemia/mental retardation syndromes. Medicine (Baltimore). 1996 Mar;75(2):45-52. doi: 10.1097/00005792-199603000-00001. PMID: 8606626. glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250880730 2021-02-28 21:35:15 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250880730 Mitchondrial Mutation glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250993381 HSD17B10 gene encodes many proteins and when mutated, the body cannot produce isoleucine, an amino acid. This causes multisystemic issues (OMIM, #300438). ]]> 2021-02-28 22:56:12 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250993381 Clinical Features glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250997422 More commonly in males, and has varying severity and onset age.
-Mental Impairment
-Cardiomyopathy ( may be lethal)
-Choreoathetosis
-Seizures
-Spastic Tetraplegia
-Optic Atrophy
OR
-Can be clinically normal]]> 2021-02-28 22:59:46 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1250997422 Prevalence glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251064138 A solid statistic for the prevalence of HSD10MD was not concluded however according to the Genome Aggregation Database, (gnom AD), it is a rare disorder found in every 1 of 183336 alleles (Waters, 2019).]]> 2021-02-28 23:56:52 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251064138 Treatment? glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251068478 Patients may avoid catabolic states and drugs that interfere with mitochondrial energy metabolism.
Medication for the seizures and spasms is common (OMIM, #300438)]]> 2021-03-01 00:00:41 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251068478 Waters, PJ, Lace, B, Buhas, D, et al. HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec. Mol Genet Genomic Med. 2019; 7:e1000. https://doi.org/10.1002/mgg3.1000 glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251076472 2021-03-01 00:07:12 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251076472 Huntington Disease / Huntington Chorea glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251102324 Autosomal Dominant Mutation of the HTT gene at locus, 4p16.3.]]> 2021-03-01 00:28:15 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251102324 Clinical Features glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251104782 Degeneration of nerve cells in the brain ( ~age 30-40)
-Mental Impairment
-Chorea
-Dystonia
-Vision problems
-Speech and Swallowing inabilities

Juvenile Huntington ( ~age 20)
-Behavior Issues
-Tremors
- Rigid Muscles
-Falling and Seizures
(Mayo Clinic, 2020)]]> 2021-03-01 00:30:02 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251104782 “Huntington's Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 14 Apr. 2020, www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117. glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251109125


]]> 2021-03-01 00:33:27 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251109125 Prevalence glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251109391 4-7 per 100,000
( OMIM, #143100)
Around 30,000 people are diagnosed in the United States (NORD, 2020)]]> 2021-03-01 00:33:43 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251109391 Single Gene Expansion glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251114818 Expansion of a CAG segment in the HTT gene.

]]> 2021-03-01 00:38:14 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251114818 Treatment glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251124797 Nothing can stop the progressive decline but there are symptom treatments.
Antipsychotics
Drugs for movement control
Anti seizure medications
Physical, Speech, and Occupational Therapies (Mayo Clinic, 2020).]]> 2021-03-01 00:46:24 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251124797 Figure :CAG Expansion glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251129286 2021-03-01 00:49:43 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251129286 OMIM, An Online Catalog of Human Genes and Genetic Disorders,Updated February 27, 2021, Accessed February 27, 2021. https://www.omim.org/ glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251138581 2021-03-01 00:57:10 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251138581 Common Trait's Relevance glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251170552 Mental impairment with Trisomy 21 is actually progressive starting after about 1 year old. The severity of the impairment varies among individuals.]]> 2021-03-01 01:21:52 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251170552 Common Trait's Relevance glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251175221 The severity of the mental impairment depends on the number of mutated genes passed down.]]> 2021-03-01 01:25:08 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251175221 Common Trait's Relevance glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251182007 The severity of the mental impairment varies among individuals even with some who show no impairments at all]]> 2021-03-01 01:30:24 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251182007 Common Trait's Relevance glf003 https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251185575 This disease causes a progressive decline in mental function. Depending on how early the disease occurs , the individual will have more or less severe symptoms and a shorter life span regardless of the onset age.]]> 2021-03-01 01:33:02 UTC https://padlet.com/glf003/qm94ti88tjevmyx1/wish/1251185575