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Table 1 Summary of clinical findings and molecular diagnose

From: Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

  P1 P2 P3
Gender F M F
Gene And Mutations NIPBL
c.4321-1G > A
NIPBL
c.218C > A
CREBBP
c.1715delC
RefSeq NM_133433 NM_133433 NM_004380
Origin De nove De nove De nove
Weight at birth 2.85 kg 2.57 kg U
Age at test 1 years 2 years 9 years
Weight at test 5 kg 7 kg 21 kg
Head circumference at test 40 cm 40 cm 51 cm
Height at test 65 cm 73 cm 110 cm
Growth retardation Severe Severe Light
Intellectual disability + + +
Speech delay U + +
Arched eyebrows/Synophrys +/+ +/− +/+
Long eyelashes + + +
Strabismus +
Low set ears +
Broad or Depressed nasal bridge/Anteverted nostrils +/+ +/+ +/−
long philtrum + +
Teeth hypoplasia U +
Laryngeal cartilage dysplasia + +
Finger or toe deformity + + +
Hirsutism +
Cryptorchidism +
Chromosomekaryotype 46,XX 46,XY 46,XX
CNV-seq
  1. M: Male, F: Female, U: Unknown