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Sreenivasan, Rajini & Alankarage, Dimuthu & Harley, Vincent. (2017). Disorders of Sex Development Loci. 10.1016

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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

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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

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Autosomal Dominant Mutation of the HTT gene at locus, 4p16.3.

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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)

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Mitochondrial Disorder ( X linked hemizygous or heterozygous mutation ( OMIM #300438).

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OMIM, An Online Catalog of Human Genes and Genetic Disorders,Updated February 27, 2021, Accessed February 27, 2021. https://www.omim.org/ 

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OMIM, An Online Catalog of Human Genes and Genetic Disorders,Updated February 27, 2021, Accessed February 27, 2021. https://www.omim.org/ 

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Chromosomal Aberration
Gene Deletion or X Chromosome Both types of mutation cause the same phenotype

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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

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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

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Common in countries near equator
1 in million in the United States (Farzana, 2015)

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4-7 per 100,000
( OMIM, #143100)
Around 30,000 people are diagnosed in the United States (NORD, 2020)

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Comparing disorders that all have mental impairment as one of their traits/symptoms.

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Comparing disorders that all have mental impairment as one of their traits/symptoms.

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1.) Trisomy 21
2.) Alpha Thalassemia
3.) HSD10MD
4.) Huntington's Disease

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Chromosomal Disorder
Trisomy 21- extra chromosome  21
Resulting in 47 total chromosomes

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-Mental Impairment
-Heart Malformations
-Short Stature
-Shortened Life Expectancy
-Visual and Hearing Impairment
-Hormonal and Gastrointestinal Issues

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1 in 650-1,000 Livebirths
(Hook, 1982 OMIM)
Change in the risk with maternal age

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What is Happening at the Cellular Level?

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What is Happening at the Cellular Level?

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Errors in Meiosis
In mother's Ova
Meiosis 1 vs Meiosis 2
Mother's age is a factor

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Nondisjunction in Meiosis I and II

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Observations of partial trisomy 21 and monosomy 21
DS Critical Region?
Amyloid-Beta Protein

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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

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Expansion of a CAG segment in the HTT gene.

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No cure-all
Therapies, surgeries, and medication that can provide a more comfortable life

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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

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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

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Both the ATR16 gene and ATRX gene are important in brain development as well as alpha-globin regulation and reproductive developments.

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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).

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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).

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Mental impairment with Trisomy 21 is actually progressive starting after about 1 year old. The severity of the impairment varies among individuals.

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What is Happening at the Cellular Level?

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What is Happening at the Cellular Level?

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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)

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In mild cases, medications and supplements help with hemoglobin levels.
Blood transfusions are needed in more severe cases (Johns Hopkins, 2018).

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HSD17B10 gene encodes many proteins and when mutated, the body cannot produce isoleucine, an amino acid. This causes multisystemic issues (OMIM, #300438).

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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.

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The severity of the mental impairment depends on the number of mutated genes passed down.

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Patients may avoid catabolic states and drugs that interfere with mitochondrial energy metabolism.
Medication for the seizures and spasms is common (OMIM, #300438)

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The severity of the mental impairment varies among individuals even with some who show no impairments at all