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Table 1 Clinical information of the three cases

From: Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing

 

Case 1 (Family1)

Case 2 (Family 2)

Case 3 (Family 3)

Genetic detection

ARID1B mutations

c.2332 + 1G > A

(splicing)

c.4741C > T

(p.Q1581X)

arrayCGH

6q25.3 deletion

Cytogenetic band deleted

46,XX

46,XX

46,XX

General information

Age at report

3y5m

2y11m

3y

Sex

Female

Female

Female

Birth weight (g)

2950

2650

3200

Birth height (cm)

NA

48

50

Head circumstances (cm)

NA

32

34

Facial features

Thick hair

+

+

+

Thick eyebrows

+

+

+

Thick eyelashes

+

+

+

Orbital hypertelorism

+

Down-slanting palpebral fissure

+

+

Up-slanting palpebral fissure

Nasal root abnormality

+

Low set ears

+

Abnormal ears

Midface hypoplasia

+

+

+

Wide mouth

+

+

+

Long philtrum

Upper lip vermilion feature

+

+

Thick lower lip vermilion

+

+

Palatal abnormality

Skeletal–limb

Transverse crease

+

+

+

Clinodactyly

+

Hypoplastic/absent fifth finger/toe

+

+

Hypoplastic/absent nail (fifth finger/toe)

+

+

Hypoplastic/absent nail (other fingers/toes)

Broad thumb

+

+

Prominent interphalangeal joints

Prominent distal phalanges

Scoliosis/spinal abnormalities

+

Joint laxity

+

+

+

Nervous system

Developmental delay

+

+

+

Seizures

+

Speech delay

+

+

+

Structural brain abnormalities

Agenesis of corpus callosum

Hypotonia

+

+

+

Hypertonia

Abnormal shape of head

+

+

+

Growth restriction

+

+

+

Microcephaly

Others

   

Hirsutism

+

+

Congenital heart defects

Genitourinary defects

Gastrointestinal abnormalities

Sucking difficulty

+

+

Feeding difficulty

+

+

Frequent vomiting

Hearing impairment

+

Visual impairment

Recurrent infections

Family information

Siblings

One sister; normal

One brother; with attention deficit hyperactivity disorder

One brother; normal

Family history

No

No

No

Consanguineous marriage

No

No

No