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Table 1 The clinical details for M659

From: Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1

Gender

Female

Age (years)

34

Skin

Café-au-lait spots with light colour

Peripheral Nervous System Tumors

Cutaneous Neurofibroma from 0.2-2.0 cm in diameter and a small amount of subcutaneous nodules mainly on her trunk and limbs

Ophthalmic

-

Central Nervous System

-

Musculoskeletal

-

Cardiovascular

-

Central Nervous System Tumors

-

Family History

With no NF1 family history from both of her parents

Pregnancy

Suffered from first-trimester spontaneous abortion with her first pregnancy, and amniocentesis was performed to extract the amniotic fluid of the fetus at 21 gestational weeks of her second pregnancy

Other Tumors

-