Updated: 4/21/2019

Inheritance Patterns of Orthopaedic Syndromes

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Introduction
  • Allows for specific patterns of inheritance controlled by a single gene pair (“monogenic”)  
    •  4 different types of patterns
      • autosomal dominant
      • autosomal recessive
      • x-linked dominant
      • x-linked recessive
    • additional inheritance effects include
      • imprinting
      • anticipation
  • In general
    • defective structural proteins = AD
    • defective enzymes = AR
Pedigree Analysis
  • A pedigree chart displays a family tree and the members of the family affected by a genetic trait
  • Use
    • a pedigree chart can be used to determine the mode of transmission
    • dominance
      • whether the trait is dominant or recessive
    • linkage
      • whether the trait is X-linked or autosomal
  • Key
    • shapes
      • circles represent females
      • squares represent males
    • color
      • a black circle/square represents an individual affected by the genetic trait
      • a white circle/square represents an individual that is not affected by the trait 
    • lines
      • horizontal
        • a male and female connected by a horizontal line have mated and have children
      • vertical
        • vertical lines connect parents to their children
Autosomal Dominant
  
  • Description
    • only need to get the abnormal gene from one parent in order for you to inherit the disease.
  • Examples 
    • Syndactyly 
    • Polydactyly 
    • Marfan's syndrome 
    • Cleidocranial Dysostosis 
    • Hereditary Multiple Exostosis 
    • Achondroplasia 
    • MED 
    • Metaphyseal chondrodysplasia (Schmid and Jansen types) 
    • Kniest dysplasia 
    • Malignant hyperthermia 
    • Ehlers-Danlos syndrome 
    • Osteogenesis imperfecta (types I and IV) 
    • Osteochondromatosis/Multiple Hereditary Exostosis 
    • Osteopetrosis (tarda, mild form) 
Autosomal Recessive
  
  • Description
    • an autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
  • Examples  
    • Diastrophic Dysplasia 
    • Friedreich's Ataxia 
    • Gaucher disease  
    • Spinal muscular atrophy 
    • Sickle cell anemia 
    • Osteogenesis imperfecta (II and III) 
    • Hypophosphatasia 
    • Osteopetrosis (infantile, malignant form) 
Sex-linked Recessive (males only)
  
 
  • Description
    • X-linked diseases usually occur in males. Males have only one X chromosome. A single recessive gene on that X chromosome will cause the disease.
  • Examples
    • Duchenne muscular dystrophy 
    • Becker's muscular dystrophy 
    • Hunter's syndrome 
    • Hemophilia  
    • SED tarda 
Sex-linked Dominant
 
  • Examples
    • Hypophosphatemic rickets 
    • Leri-Weill dyschondrosteosis (bilateral Madelung's deformity) 
Multiple inheritance patterns
  • Examples
    • Charcot-Marie-Tooth (AD, AR, Xlink) 
    • Osteopetrosis (AD, AR) 
    • Osteogenesis Imperfecta (AR, AD) 
    • Neurofibromatosis (AD, AR) 
    • SED (AD, Xlink) 
Miscellaneous Genetic Inheritance
  • Imprinting
    • a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner 
    • Examples
      • Angelman Syndrome
      • Prader-Willi Syndrome 
  • Anticipation
    • a phenotype occurs earlier (and typically worse) in each subsequent generation   
    • common in trinucleotide repeat disorders
 

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Questions (8)
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(OBQ11.159) Which of the following genetic defects does not follow Mendelian patterns of inheritance? Review Topic

QID: 3582
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1

Defect in the fibroblast growth factor (FGF) receptor 3

7%

(256/3688)

2

Mutation of a gene coding for a sulfate transport protein

21%

(769/3688)

3

Defect in the Gs-alpha protein

45%

(1660/3688)

4

Defect in the fibrillin gene

8%

(289/3688)

5

Deficient activity of the enzyme ß-glucosidase (glucocerebrosidase)

18%

(675/3688)

L 4

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(OBQ11.272) A 46-year-old female begins to have personality changes, cognitive decline, and chorea. Her father began having similar but less severe symptoms at age 55 before passing away 6 years later. One of her 2 older siblings has also begun to show deterioration. Which of the following describes the hereditary pattern of this disease?
Review Topic

QID: 3695
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1

Autosomal dominant with variable penetrance

22%

(579/2663)

2

Autosomal recessive with variable penetrance

3%

(80/2663)

3

X-linked recessive

3%

(76/2663)

4

Autosomal dominant with anticipation

70%

(1867/2663)

5

Autosomal dominant with imprinting

2%

(47/2663)

L 2

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(OBQ07.219) Which of the following conditions exhibit the inheritance pattern shown in Figure A, assuming no new mutations? Review Topic

QID: 880
FIGURES:
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1

Duchenne muscular dystrophy

15%

(229/1550)

2

Hunter's syndrome

17%

(269/1550)

3

Hemophilia

16%

(250/1550)

4

Spondyloepiphyseal dysplasia (SED) tarda

15%

(225/1550)

5

Diastrophic dysplasia

37%

(572/1550)

L 5

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(OBQ06.228) Prader-Willi syndrome and Angelman syndrome are examples of a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. What is the name of this genetic phenomenon? Review Topic

QID: 239
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1

Sex-linked dominant transmission

16%

(61/371)

2

Y-linked dominant transmission

1%

(4/371)

3

X-linked dominant transmission

6%

(23/371)

4

Genomic imprinting

73%

(270/371)

5

Mendelian inheritance

4%

(13/371)

L 2

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(OBQ05.228) Which of the following is a phenomenon whereby the symptoms of a genetic disorder become apparent at an earlier age as it is passed on to the next generation? Review Topic

QID: 1114
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1

Genetic drift

3%

(15/588)

2

Expansion

2%

(10/588)

3

Mendelian inheritance

3%

(20/588)

4

Anticipation

90%

(531/588)

5

Phenotypic plasticity

1%

(7/588)

L 1

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