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Imprinting Disorders

PWS 75% del 15q11-q13, 20% Maternal UPD, 5% mutation in imprinting center
Dx criteria for PWS: Birth to 2 years Hypotonia with poor sucking, mother may have noted decreased fetal activity and baby is often breech
Dx criteria for PWS: 2-6 years Hypotonia with poor sucking, global developmental delay; poor growth
PWS: 6-12 years Instatiable appetite; chronic overeating; obesity; diabetes mellitus; behavioral issues (temper tantums; stubbornness; compulsive behaviors; stealing and lying)
Dx criteria for PWS: 13 yrs-adulthood Cognitive impairment (mild MR); excessive eating with central obesity; hypothalamic hypogonadism and/or typical behavioral problems
Additional features of PWS: Infantile lethargy (improves with age); distinctive faces, short stature; small hands & feet; usually fair skin or light colored hair; underdeveloped genitals; delayed or incomplete puberty; may be infertile; myopia; thick saliva; speech problems
Some unusual findings with PWS SMALL HANDS & FEET, high pain threshold; decreased vomiting; scoliosis and/or kyphosis; early adrenarche; osteoprosis; jigsaw puzzles; normal neuromuscular studies
Compared to PWS patients with del 15q, patients with UPD 15 are... less likely to be hypopigmented or have the typical facial features. Don't usually show the skin picking, jigsaw puzzle skills, or high pain threshold. Also, they are more likely to have psychotic illness.
Characteristic PWS face 1. Narrow temple distance and nasal bridge 2. Almost-shaped eyes, Mild strabismus 3. Thin upper lip, downturned mouth 4. Overweight
Clinical testing for PWS 1. Methylation analysis 2. Mutation ID using FISH 3. Imprinting defect... cannot be defected with sequence analysis
Angelman etiology 15q11-13 deletion (always maternally derived is missing/deleted) 2% of the time paternal UPD, 2% of time mutation in the imprinting center, 5-10% of time translocation
Patients with chromosome 15 deletions are more severely affected with... seizures, microcephaly, and hypopigmentation
The laughter of AS children is not associated with happiness but rather... is suggestive of a defect at the brainstem level
Interesting features in children with AS sleeping problems, sensitive to heat, left hand preference
Developmental delays in children with AS are often first noticed around... 6 months of age
Clinical features of AS do not manifest until after... one year of age
What can be associated with poor weight gain in AS patients? Gastroesophageal reflux
BWS fast facts 21% infant mortality rate possibly due to increased likelihood for prematurity; 6.5% frequency of tumors; increased risk of malignancy associated with children who have hemihypertrophy
BWS etiology 10-15% cases AD with preferential maternal transmission; loss of imprint in LIT1 accounts for 40-50% of BWS cases.
Features of BWS Macrosomia, Macroglossia, large birth wt and length; embyonal tumors; omphalocele or umbilical hernia; neonatal hypoglycemia; advanced bone age; ear creases or pits; maloclussion; renal anomalies; nevus flammeus; Wilms tumor and hepatoblastoma
BWS genes DMR2, H19 (DMR1), CDKN1C, KCNQ1OT1 (DMR2)
BWS cytogenetics testing translocations, inversions of maternal chromosome 11, dup of paternal chromosome 11
BWS second tier testing methylation (DMR1 and 2)
BWS third tier testing FISH
Treatment for BWS kids... special feeding techniques; hydrocortisone analogue therapy for hypoglycemia (1-4 months); Renal US and AFP levels to rule out Wilms tumor and hepatoblastoma
Created by: KChatham
Popular Genetics sets




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