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Table 1 Clinical features and genotype of EP300 patients

From: Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

Patient

#111

#271

#38

#42

#452

#47

#57

#67

DAUGHTER

MOTHER

EP300 mutation

Nucleotide change

c.4954_4957dup

c.3728 + 5G > C

c.3163C > T

c.6627_6638del

c.7222_7223del

c.4511 T > G

DEL:Ex. 12–21

c.70_71del

Predicted effect

p.(Cys1653Tyrfs*21)

 

p.(Arg1055*)

p.(Asn2209_Gln2213delinsLys)

p.(Gln2408Glufs*39)

p.(Phe1504Cys)

 

p.(Ser24Glyfs*14)

 

Exon

30

In 21

17

31

31

31

28

12 to 21

1

 

Number of reads (variant/total)

17/74

143/286

71/140

N.A. (SANGER SEQ)

238/486

219/485

282/581

N.A. (MLPA)

35/81

Age

 

18

16

21

9

9

42

< 1

< 1

10

Sex

 

M

M

M

M

F

F

M

F

F

Gestational problems

Preeclampsia

N.D.

mild hypertension

 

N

N

 

Y

N

N

Prenatal growth retardation

N.D.

Y

N.D.

N

Y

 

N

N

N

Other

   

N

  

high risk in triple screening, premature

  

Growth delayed

  

N

N

 

Y

Y

N.D.

N.D.

Y

Intellectual disability

Mild

 

Y

  

Y

Y

N.D.

N.D.

Y

Moderate

Y

 

Y

   

N.D.

N.D.

 

Severe

   

Y

  

N.D.

N.D.

 

Pysochomotor delay

 

Y

Y

Y

Y

N

N

N.D.

N.D.

N

Language delay

 

N

Y

Y

Y

N

N

N.D.

N.D.

N

Behavioral problems

Anxiety

N

N

N

Y

mild

N

N.D.

N.D.

N

Autism, autism-like

N

Y

stereotypes

Y

N

N

N.D.

N.D.

N

Other

 

ADHD

 

hearing bizarries

    

ADHD

Typical facial dysmorphims

Arched eyebrows

N

N

Y

Y

N

N

 

N

 

Thick eyebrows

Y

Y

Y

N

N

N

 

N

Y

Long eyelashes

Y

N

Y

Y

Y

Y

  

Y

Microcephaly

Y

Y

Y

Y

Y

Y

Y

Y

Y

Downslanting palpebral fissures

Y

Y

Y

Y

Y

N

 

N

Y

Columella below the alae nasi

Y

Y

Y

Y

Y

Y

Y

±

Y

Prominent nose

Y

Y

Y

Y

Y

Y

Y

N

N

Narrow palate

Y

Y

Y

Y

Y

N

 

N

Y

Narrow mouth

Y

Y

Y

N

Y

N

 

N

N

Grimacing smile

N

N

Y

Y

N

N

N

Y

Y

Posteriorly rotated ears

N

Y

N

N

Y

Y

N

N

Y

Low set ears

N

Y

N

N

N

N

N

N

Y

Other

 

micrognathia

 

large tongue

  

micrognathia, ocular hypertelorism

  

Skeletal abnormalities

Broad thumbs

Y

N

Y

Y

Y

Y

Y

±

Y

Angulated thumbs

Y

N

N

Y

N

N

N

N

N

Broad halluces

Y

Y

Y

Y

N

N

N

±

N

Scoliosis

N

N

N

N

N

N

N

N

N

Other

delayed bone age

Pextus excavatum

       

Skin abnormalities

Keloids

Y

N

N

heals badly

N

N

N

N

N

Hirsutism

Y

N

Y

N

N

N

N

N

Y

Urinary tract anomalies

 

cryptorchidism

N

hydrocele

N

N

N

N

N

N

GI problems

Infant feeding problems

Y

Y

N

binge eating

N

N.D.

N

N

N

Others

       

hypoketosic hypoglycemia

 

Teeth malformations

Dental crowding

Y

Y

Y

N

N

N

N.D.

N.D.

Y

Talon cusp

N

N

N

N

N

Y

N.D.

N.D.

N

Malocclusion

N

Y

Y

N

N

N

N.D.

N.D.

N

Other

         

Eye anomalies

Strabismus

N

Y

Y

N

N

N

N.D.

N.D.

Y

Coloboma

N

N

N

N

N

N

N.D.

N.D.

N

Other

 

myopia

 

N

hypermetropia

   

hypermetropia

  1. N.D.: no data available. ADHD: Attention Deficit Hyperactivity Disorder. 1Previously described by Fergelot et al. 2016. 2Case previously reported by Lopez et al. 2016
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BMC Medical Genetics

ISSN: 1471-2350

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