Question 1

Which gene is most commonly associated with syndromes involving histone modification enzyme dysfunction leading to facial dysmorphisms and developmental delay?

Accepted Answer

CBP, EP300

Question 2

A patient presents with bushy eyebrows, a wide mouth, and sparse scalp hair. Genetic testing reveals a mutation in a chromatin remodeler gene. Which gene is most likely mutated?

Accepted Answer

SMARCA4

Question 3

Which of the following best describes the molecular function of the KMT2D gene?

Accepted Answer

Encodes a histone modification enzyme

Question 4

A child with developmental delay, short stature, and prominent beaked nose is found to have a mutation in a gene encoding a histone modification enzyme. Which syndrome is most likely?

Accepted Answer

Rubinstein-Taybi syndrome

Question 5

Which clinical feature is most commonly associated with mutations in the ANKRD11 gene?

Accepted Answer

Macrodontia of the upper central incisors

Question 6

A patient with facial dysmorphisms, intellectual disability, and joint hypermobility is found to have a mutation in a gene involved in histone modification. Which gene is most likely affected?

Accepted Answer

KAT6B

Question 7

Which of the following is a function of chromatin remodeler genes such as SMARCA2?

Accepted Answer

Facilitate access to DNA by altering nucleosome positioning

Question 8

A multi-step scenario: A child presents with intellectual disability, facial asymmetry, and microcephaly. Genetic analysis reveals a mutation in a chromatin remodeler gene. Which syndrome is most likely, and what is the expected molecular defect?

Accepted Answer

Coffin-Siris syndrome; chromatin remodeling defect

Question 9

Which equation best represents the relationship between gene expression ($$E) $$and chromatin accessibility ($$A) in $$disorders of transcriptional regulation?

Accepted Answer

$$E = k 	imes A$$

Question 10

A patient with facial dysmorphisms, developmental delay, and growth deficiency is found to have a mutation in KDM6A. What is the primary molecular function affected?

Accepted Answer

Histone demethylation

Question 11

Which syndrome is characterized by facial dysmorphisms, coloboma, and heart defects due to mutations in chromatin remodeler genes?

Accepted Answer

CHARGE syndrome

Question 12

A patient with intellectual disability and hypodontia is found to have a mutation in a gene regulating histone acetylation. Which gene is most likely mutated?

Accepted Answer

ANKRD11

Question 13

Which of the following best explains why mutations in chromatin remodeler genes can lead to developmental delay?

Accepted Answer

They disrupt the regulation of gene expression by altering chromatin structure

Question 14

A patient with long palpebral fissures and growth deficiency is most likely to have a mutation in which gene?

Accepted Answer

KMT2D

Question 15

Which of the following is NOT a typical clinical feature of disorders caused by mutations in histone modification enzymes?

Accepted Answer

Increased muscle mass

Question 16

A patient with intellectual disability, hypotonia, and sparse scalp hair is found to have a mutation in a chromatin remodeler gene. Which gene is most likely affected?

Accepted Answer

SMARCA4

Question 17

Which of the following genes is most likely to be mutated in a patient with facial dysmorphisms, cryptorchidism, and hypothyroidism?

Accepted Answer

KAT6B

Question 18

Which syndrome is associated with mutations in both KMT2D and KDM6A genes?

Accepted Answer

Kabuki syndrome

Question 19

A patient with facial dysmorphisms, coloboma, and heart defects is found to have a mutation in a gene encoding a chromatin remodeler. Which gene is most likely affected?

Accepted Answer

SMARCA2

Question 20

Which of the following best describes the role of histone acetylation in gene expression?

Accepted Answer

Histone acetylation relaxes chromatin and promotes gene expression

Genetic Disorders of Transcriptional Regulation: Key Genes, Mechanisms, and Clinical Features

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