Table 2 Clinical features of each patient

From: Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

 

Patient 1

Patient 2

Patient 3

Patient 4

Mutation

A_T at 275

G_A at 1514

A_G at 1790

T_C at 4871

 

E92V

R505Q

H597R

L1624P

Age (years)

1

13

4

2

Clinical features

    

 Major criteria

    

Facial angiofibromas or forehead plaque

N

Y

Y

Y

Nontraumatic ungual or periungual fibromas

N

N

N

N

Hypomelanotic macules (three or more)

Y

N

Y

Y

Shagreen patch (connective tissue nevus)

N

N

Y

N

Multiple retinal nodular hamartomas

N

?

?

N

Cortical tuber

Y

N

Y

Y

Subependymal nodule

?

N

Y

Y

Subependymal giant cell astrocytoma

N

N

N

N

Cardiac rhabdomyoma, single or multiple

N

?

N

Y

Lymphangioleiomyomatosis

N

?

N

N

Renal angiomyolipoma

N

?

N

N

 Minor criteria

    

Multiple pits in dental enamel

N

?

?

N

Hamartomatous rectal polyps

?

?

?

?

Bone cysts

?

?

?

?

Cerebral white matter radial migration lines

?

N

N

N

Gingival fibromas

N

N

N

N

Nonrenal hamartoma

N

N

N

N

Retinal achromatic patch

N

?

?

N

Confetti skin lesions

N

N

N

N

Multiple renal cysts

N

?

N

N

 Other features

    

Intellectual disability

N

Y

Y

Y

Seizures

Y

Y

Y

Y

  1. Key: N, clinical feature reported to be absent; Y, clinical feature reported to be present; ?, status of clinical feature not reported.
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