Question 1

Which syndrome is associated with mutations in the CBP and EP300 genes, and what is the primary function of the encoded proteins?

Accepted Answer

Rubinstein-Taybi syndrome; histone modification enzymes

Question 2

A child presents with facial dysmorphisms including hypertelorism, downslanted palpebral fissures, and developmental delay. Genetic testing reveals a mutation in the KMT2A gene. What is the most likely diagnosis?

Accepted Answer

Wiedemann-Steiner syndrome

Question 3

Which syndrome is characterized by facial dysmorphisms such as long palpebral fissures, eversion of lateral third of lower eyelids, and persistence of fetal fingertip pads, and is caused by mutations in KMT2D or KDM6A?

Accepted Answer

Kabuki syndrome

Question 4

Which of the following syndromes is associated with mutations in the KAT6B gene and presents with blepharophimosis, developmental delay, and patellar hypoplasia/agenesis?

Accepted Answer

Say-Barber-Biesecker/Young-Simpson syndrome

Question 5

A patient with anteverted nares, macrodontia of the upper central incisors, short stature, and skeletal anomalies is most likely to have a mutation in which gene?

Accepted Answer

ANKRD11

Question 6

Which syndrome involves chromatin remodeling proteins encoded by ARID1A, ARID1B, SMARCA4, SMARCB1, and SMARCE1, and is characterized by bushy eyebrows, large mouth, and aplasia/hypoplasia of the distal phalanx or nail?

Accepted Answer

Coffin-Siris syndrome

Question 7

A child presents with coarse facial features, sparse hair, interphalangeal joint swelling, microcephaly, seizures, and developmental delay. Which gene is most likely mutated?

Accepted Answer

SMARCA2

Question 8

Which syndrome is associated with facial asymmetry, cup-shaped ears, coloboma, heart defects, choanal atresia, and retarded growth and development, and is caused by mutations in the CHD7 gene?

Accepted Answer

CHARGE syndrome

Question 9

Which of the following best describes the molecular function of the proteins encoded by the CBP and EP300 genes?

Accepted Answer

Histone modification enzymes

Question 10

A patient with developmental delay, hypotonia, bushy eyebrows, and sparse scalp hair is most likely to have a mutation in which group of genes?

Accepted Answer

ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1

Question 11

Which syndrome is caused by a mutation in a gene that regulates histone acetylation and presents with macrodontia, short stature, and skeletal anomalies?

Accepted Answer

KBG syndrome

Question 12

Which syndrome is most likely if a patient presents with facial dysmorphisms, heart defects, choanal atresia, and genital abnormalities?

Accepted Answer

CHARGE syndrome

Question 13

Which gene is NOT associated with chromatin remodeling function?

Accepted Answer

KMT2A

Question 14

A patient with developmental delay, hypotonia, joint stiffness, and cryptorchidism is most likely to have a mutation in which gene?

Accepted Answer

KAT6B

Question 15

Which syndrome is characterized by the persistence of fetal fingertip pads and is caused by mutations in genes encoding histone modification enzymes?

Accepted Answer

Kabuki syndrome

Question 16

Which syndrome is associated with mutations in the CHD7 gene and presents with coloboma, heart defects, and ear anomalies?

Accepted Answer

CHARGE syndrome

Question 17

Which syndrome is most likely if a patient presents with microcephaly, seizures, and interphalangeal joint swelling?

Accepted Answer

Nicolaiades-Baraitser syndrome

Question 18

Which of the following syndromes is NOT primarily associated with histone modification enzymes?

Accepted Answer

Coffin-Siris syndrome

Question 19

A patient with facial dysmorphisms, sparse scalp hair, and developmental delay is found to have a mutation in a gene encoding a chromatin remodeler. Which syndrome is most likely?

Accepted Answer

Nicolaiades-Baraitser syndrome

Question 20

Which syndrome is associated with aplasia/hypoplasia of the distal phalanx or nail, and which group of genes is implicated?

Accepted Answer

Coffin-Siris syndrome; ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1

Genetic Syndromes Involving Chromatin and Histone Modification: Genes, Functions, and Clinical Features

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