How mutations affect health and tooth development

Question 1

Stabilizes the amorphous Ca-P phase, control of apatite crystal morphology and organization, control of enamel thickness. Amelogenins have the ability to self-assemble into nanosperes and thereby guide HAP crystal formation/growth

Answer 1

Amelogenin

Question 2

_____ dentinogenesis usually occur in people without other inherited disorders.

Answer 2

Type II and Type III dentinogenesis

Question 3

Matrix metalloproteinase which cleave amelogenin.

Answer 3

Enamelysin (MMP20):

Question 4

is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.

Answer 4

Dentinogenesis imperfecta

Question 5

mutation resulting in an altered protein that reduces or inhibits the function of another normal protein in the cell.

Answer 5

Dominant negative

Question 6

______ is a new gene responsible for amelogenesis imperfecta with less functional information; stage-specific regulator of enamel mineralization (maturation stage-specific phenotypes)

Answer 6

WRD72

Question 7

Over ______ genes identified that have mutations associated with tooth patterning, morphogenesis defects and cell differentiation defects

Answer 7

300 genes

Question 8

disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth.

Answer 8

Amelogenesis imperfecta

Question 9

_____ diseases often present in consanguineous marriages

Answer 9

Autosomal recessive diseases

Question 10

_______ mutations are often more deleterious than mutations causing the production of no gene product (cancer).

Answer 10

dominant negative

Question 11

Cooperates with amelogenin to control mineral nucleation and elongated growth

Answer 11

Enamelin

Question 12

_______ is another new gene responsible for amelogenesis imperfecta (little functional information); encodes a peptide with In Vitro Hydroxyapatite crystal nucleation and growth activity

Answer 12

C4orf26

Question 13

___ diseases are not caused by the presence of other diseases

Answer 13

Non-syndromic diseases

Question 14

Cleaves amelogenin, ameloblastin and enamelin at the secretory stage to produce stable intermediates with defined functions.

Answer 14

Mmp-20

Question 15

_____ has been a potential candidate genes for amelogenesis imperfecta

Answer 15

Amelotin

Question 16

A deficiency of ______ had been suggested as a causative factor in dentinogenesis imperfecta

Answer 16

dentin sialophosphoprotein (DSPP)

Question 17

Enamelysin (MMP20) are Matrix metalloproteinase which cleave _____

Answer 17

amelogenin

Question 18

Digests enamel proteins during maturation stage facilitating their removal and hardening the final layer of enamel

Answer 18

Kallikrein 4

Question 19

________ dentinogenesis occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. The primary teeth tend to be more severely affected than the permanent teeth.

Answer 19

Type I dentinogenesis

Question 20

_____ is a novel responsible gene for oligodontia discovered by exome sequencing

Answer 20

LRP6

Question 21

a genetic condition in which bones are brittle and easily broken

Answer 21

osteogenesis imperfecta

Question 22

As a collective group _____ genetic diseases are the most common

Answer 22

craniofacial genetic diseases

Question 23

Genetic diseases of the ______ include Malocclusion syndromes, craniofacial malformations, bone mass traits, tooth agenesis, tooth movement, and tooth development disorders

Answer 23

dentition

Question 24

mutation that results in increased function or new function in a protein.

Answer 24

Gain-of-function mutation

Question 25

Cell adhesion protein, controls cell differentiation, maintains rod integrity

Answer 25

Ameloblastin

Question 26

~186kDa protein and ~5% of the enamel matrix.

Answer 26

Enamelin

Question 27

T/F: Tooth developmental defects should perhaps be thought of as a potential risk factor for other diseases that manifest later in life.

Answer 27

True

Question 28

______ diseases occur when you have another disease that affects tooth issues

Answer 28

Syndromic

Question 29

______ (gene) is a master regulator of osteoblastogenesis and bone formation; Characterized by delayed closure of the sutures, aplastic or hypoplastic clavicle formation, short stature and dental abnormalities.

Answer 29

RUNX2

Question 30

T/F: The developmental signaling pathways that drive tooth development are also critical in the development of many other organs

Answer 30

True

Question 31

In type ____ dentinogenesis the dentin is extremely thin and pulp chamber is extremely enlarged

Answer 31

type 3 dentinogenesis

Question 32

Absence results in dysfunction. Mutations results in less or no function of certain proteins. Many autosomal recessive cases in enzyme deficiency

Answer 32

Loss-of-function mutation

Question 33

~70kDa protein. ~10% of enamel matrix. 4q21.

Answer 33

Ameloblastin

Question 34

_____ occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes

Answer 34

Dentinogenesis imperfecta type I

Question 35

Teeth in type 3 dentinogenesis are called ______ teeth

Answer 35

shell teeth

Question 36

reduced gene dosage resulting in insufficient protein being made and diminished functioning of the cell.

Answer 36

Haploinsufficiency:

Question 37

main protein important in forming enamel. Xp22, X-linked amelogenesis imperfecta

Answer 37

Amelogenin

Question 38

Serine protease which digest enamel matrix

Answer 38

Kalliklein 4 (KLK4)

Question 39

____ is a responsible gene for oligodontia

Answer 39

Keratin 17

Question 40

An _____ (gene) mutation impairs Wnt/b-catenin signaling in human results in tooth agenesis and colorectal cancer.

Answer 40

AXIN2

Question 41

mutation that results in an absence of function.

Answer 41

Loss-of-function mutation

Question 42

Ectodermal dysplasia involve ______

Answer 42

teeth, hair, nails, and tears