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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