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5 Genetic Disorders Explained
- 1. Genetic Disorders Biology 100 Slides By: Dianne Abellana
- 2. X linked Anhidrotic Dysplasia Fragile X Syndrome Incontinenti a Pigmenti Down Syndrome Turner Syndrome 5 Genetic Disorders
- 3. X Linked Anhidrotic Dysplasia A form of ectodermal dysplasia, which is a group of conditions Immune system function is reduced in people with EDA-ID. The signs and symptoms are evident soon after birth. Characteristics : Sparse scalp and body hair Missing teeth/ teeth that are small and pointed. An inability to sweat Skin abnormalities X link recessive
- 4. Figure. Skin histopathology showing hyperkeratosis of the epidermis with loss of rete ridges, adnexal structures in the dermis. Cause Mutations in the EDA, EDAR, and EDARADD genes. Most cases are inherited in an X-linked pattern and are caused by mutations in the EDA gene. (Xq13.1) This gene encodes the protein Ectodysplasin A (EDA), a transmembrane protein of the TNF family which plays an important role in the development of ectodermal tissues such as skin in humans. Location
- 5. Treatment Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).
- 6. Fragile X Syndrome A genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Characteristics: Seizures. (about 15% of males and about 5% of females) delayed development of speech and language by age 2 mild to moderate intellectual disability have anxiety and hyperactive behavior features of autism spectrum disorder attention deficit disorder (ADD) X link dominant
- 7. Fragile X Chromosome Cause FXS is caused by changes in the fragile X mental retardation 1 (FMR1) gene, most commonly an increase in the number of CGG trinucleotide repeats in the 5' untranslated region of FMR1. . The FMR1 gene usually makes a protein called fragile X mental retardation protein (FMRP). FMRP is needed for normal brain development. People who have FXS do not make this protein.. (Xq27.3) Location Mutated FMR 1 gene
- 8. Treatment There is no single treatment for Fragile X syndrome, but there are treatments that help minimize the symptoms of the condition. Individuals with Fragile X who receive appropriate education, therapy services, and medications have the best chance of using all of their individual capabilities and skills.
- 9. Incontinentia Pigmenti A rare genetic condition characterized by skin, eye, teeth, nails, hair and central nervous system (CNS) abnormalities. Characteristic skin lesions are present at birth or develop in the first few weeks of life in approximately 90% of patients. Characteristics: Four Stages 1. Vesicular (blistering) 2. Verrucous (Wart-like rashes) 4. Hypopigmentation 3. Hyperpigmentation X link dominant
- 10. Incontinentia Pigmenti A rare genetic condition characterized by skin, eye, teeth, nails, hair and central nervous system (CNS) abnormalities. Characteristic skin lesions are present at birth or develop in the first few weeks of life in approximately 90% of patients. Characteristics: Other organs involved Eyes Nails Hair Teeth X link dominant
- 11. IKBKG mutation Cause Some cells produce a normal amount of IKBKG protein and other cells produce none. The resulting imbalance in cells producing this protein leads to the signs and symptoms of incontinentia pigmenti. (Xq28) IKBKG gene is the regulatory subunit of the inhibitor of IκB kinase (IKK) complex, which activates NF-κB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways Males have little to no chance of survival as compared to females. Location
- 12. Treatment There is no specific treatment for incontinentia pigmenti. The main goal is to prevent secondary bacterial infection of skin lesions and to monitor closely the development of related problems. This should include regular dental care and close monitoring by an ophthalmologist for the first few years of life.
- 13. Down Syndrome A common birth defect that is usually due to an extra chromosome 21 (trisomy 21). Three Types: Trisomy 21 Translocation Mosaicism Changes in Chromosome number Each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies. 95% The long arm of chromosome 21 is attached to another chromosome, generally an acrosome, mainly chromosome 14 3-4% There are two cell lineages, one with the normal number of chromosomes and another one with an extra number of chromosome 21 1-2%
- 14. Characteristics:
- 15. Trisomy 21 Cause Babies with Down syndrome have an extra copy of one of these chromosomes: chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. total of 47 Location
- 16. Treatment Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy.
- 17. Turner Syndrome A chromosomal condition that alters development in females. Characteristics: Changes in Chromosome number Women tend to be shorter than average and are usually infertile because of an absence of ovarian function A chromosomal condition that alters development in females. Short stature Undeveloped sex features Swollen hands and feet Low hairline Droopy eyes Increased angulation at the elbow Fingernails and toenails that point slightly upward Hyperpigmented
- 19. Cause Absence of one complete or partial copy of the X chromosome in some or all the cells. The abnormal cells may have only one X (monosomy) (45,X) or they may be affected by one of several types of partial monosomy like a deletion of the short p arm of one X chromosome (46,X,del(Xp)) or the presence of an isochromosome with two q arms (46,X,i(Xq)). Turner syndrome has distinct features due to the lack of pseudoautosomal regions, which are typically spared from X-inactivation. Location . While most people have 46 chromosomes, people with TS usually have 45.
- 20. Treatment HUMAN GROWTH HORMONE. If given in early childhood, hormone injections can often increase adult height by a few inches. ESTROGEN REPLACEMENT THERAPY (ERT). This can help start the secondary sexual development that normally begins at puberty (i.e. development of breast and wider hips). Health care providers may prescribe a combination of estrogen and progesterone to girls who haven’t started menstruating by age 15.
- 21. X linked Anhidrotic Dysplasia Fragile X Syndrome Incontinenti a Pigmenti Down Syndrome Turner Syndrome
Editor's Notes
- We have 3 Single gene disorders and 2 chromosome abnormalities
- 3rd: and due to the severity of the immune system problems, most people with this condition survive only into childhood. Characteristics: abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. Skin abnormalities =areas that are dry, wrinkled, or darker in color than the surrounding skin An inability to sweat (anhidrosis) can lead to a dangerously high body temperature (hyperthermia), Anhidrosis refers to the complete absence of sweating, while hypohidrosis is when a person sweats less than normal.
- A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males, one altered copy of the gene in each cell is sufficient to cause the condition. In females, a mutation must be present in both copies of the gene to cause the disorder. EDAR mutations can have an autosomal dominant or autosomal recessive pattern of inheritance, and EDARADD mutations have an autosomal recessive pattern of inheritance. Ectodysplasin A (EDA) is a protein that in humans is encoded by the EDA gene. Ectodysplasin A is a transmembrane protein of the TNF family which plays an important role in the development of ectodermal tissues such as skin in humans.
- features of autism spectrum disorder that affect communication and social interaction. have anxiety and hyperactive behavior such as fidgeting or impulsive actions. Macroorchidism (abnormally large testis) attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks.
- primarily in females and on occasion in males These patches fade with time, and adults with incontinentia pigmenti usually have lines of unusually light-colored skin (hypopigmentation) on their arms and legs. There are four recognised clinical stages but their sequence is irregular, their duration variable and they may overlap. Characteristic skin lesions evolve through four stages: 1. Blistering (birth to age ~4 months) {Red, blister-like lesions Often appear grouped in lines along the arms and legs, first few months of life } 2. Wart-like rash (for several months) Thick crusts or scabs form on top of healing blisters Lesions may be darker in skin colour May last for months, but rarely longer than a year 3. Swirling macular hyperpigmentation (age ~6 months into adulthood) Skin is darkened in a swirled pattern Pigmentation ranges from blue-grey or slate to brown Heavy pigmentation tends to fade slowly with increasing age 4. Linear hypopigmentation develop during adolescence and persist into adulthood (Appear as pale, hairless patches or streaks) Pics: (A) Linear vesicles and bullae of stage 1. (B) Dark brown colored verrucous papules and plaques of stage 2. (C) Light brown colored swirling hyperpigmentation of stage 3. (D) White atrophic patches of stage 4. Neurologic findings including seizures, intellectual disability, and developmental delays are occasionally seen.
- primarily in females and on occasion in males These patches fade with time, and adults with incontinentia pigmenti usually have lines of unusually light-colored skin (hypopigmentation) on their arms and legs. There are four recognised clinical stages but their sequence is irregular, their duration variable and they may overlap. Characteristic skin lesions evolve through four stages: 1. Blistering (birth to age ~4 months) {Red, blister-like lesions Often appear grouped in lines along the arms and legs, first few months of life } 2. Wart-like rash (for several months) Thick crusts or scabs form on top of healing blisters Lesions may be darker in skin colour May last for months, but rarely longer than a year 3. Swirling macular hyperpigmentation (age ~6 months into adulthood) Skin is darkened in a swirled pattern Pigmentation ranges from blue-grey or slate to brown Heavy pigmentation tends to fade slowly with increasing age 4. Linear hypopigmentation develop during adolescence and persist into adulthood (Appear as pale, hairless patches or streaks)
- An affected mother may pass the gene to a female child with one chance in three for each pregnancy. The other two surviving possibilities include an unaffected male and an unaffected female. Affected male conceptions almost never complete the pregnancy and usually die in utero. Infrequently, the gene can change in a female child without the mother having IP. Extremely rarely, a male child may be affected if some of his cells changed after his conception, making him a mosaic. If he survives to adulthood, rare cases of transmission from a mosaic father to an affected female have been documented with molecular confirmation. Some people with incontinentia pigmenti inherit an IKBKG mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In males (who have only one X chromosome), most IKBKG mutations result in a total loss of the IKBKG protein. A lack of this protein appears to be lethal early in development, so few males are born with incontinentia pigmenti. Affected males who survive may have an IKBKG mutation with relatively mild effects, an IKBKG mutation in only some of the body's cells (mosaicism), or an extra copy of the X chromosome in each cell. Dominant X-linked disease means that a female with only one copy of the abnormal gene will show the disease, even though they have a normal gene on their other X-chromosome. Males who inherit the abnormal gene do not survive, resulting in miscarriage or stillbirth (X-linked dominant, male-lethal syndrome). Rarely incontinentia pigmenti is reported in males with Klinefelter syndrome (XXY syndrome) or as a result of spontaneous mutations.
- 3. Robertsonian Translocation Trisomy 21 :The long arm of chromosome 21 is attached to another chromosome, generally an acrosome, mainly chromosome 14/ occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
- In mosaic individuals, cells with X monosomy (45,X) may occur along with cells that are normal (46,XX), cells that have partial monosomies, or cells that have a Y chromosome (46,XY). The presence of mosaicism is estimated to be relatively common in affected individuals (67–90%).
- ERT also provides protection against bone loss.