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Table 1 Genetic and clinical data from family segregating a RAB39B mutation

From: Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

 

II-3

II-4

III-3

III-4

III-5

Age at first assessment (months)

NA

NA

36

36

60

Sex

F

M

M

M

F

Microarraya

NS

NS

NS

NS

NS

WGSb

Xq28, RAB39B,

g.154,490,171C>A

3p26.3, CNTN6, g.1,443,180G>A

WT RAB39B

WT CNTN6

Xq28, RAB39B,

g.154,490,171C>A

3p26.3, CNTN6, g.1,443,180G>A

Xq28, RAB39B,

g.154,490,171C>A

3p26.3, CNTN6 g.1,443,180G>A

Xq28, RAB39B,

g.154,490,171C>A

WT CNTN6

Growth

 Head circumference (%ile)

NA

NA

98th

98th

50th

Neurodevelopment

 Full-scale IQ

110

109

39

32

69

 Speech delay

NA

NA

+

+

+

 ASD

−

−

+

+

+

 Other neurodevelopmental

NA

NA

−

−

−

Neurological

 Epilepsy

−

−

−

−

−

 Parkinson

−

−

−

−

−

 Other neurological

Tremor

NA

Tremor, bradykinesia, poor fine motor

Poor fine motor

−

 Congenital

NA

NA

Syndactyly

Syndactyly, epicanthus, high-arched palate

Left epicanthus

 Other medical

NA

NA

−

−

−

  1. NA information not available, +/− positive/negative for attribute
  2. a NS implies no variants of pathological significance, or variants of unknown significance contributing to ASD identified
  3. b WT wild type