Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder with autosomal dominant inheritance. We performed mutation analyses on 123 Chinese patients with “definite TSC” according to the latest diagnostic criteria. Pathogenic / likely-pathogenic variants were identified in 72.2% of...

Full description

Saved in:
Bibliographic Details
Published in:European journal of medical genetics 2022-10, Vol.65 (10), p.104573-104573, Article 104573
Main Authors: Ng, Samuel YL, Luk, Ho-Ming, Hau, Edgar WL, Cheng, Shirley SW, Yu, Kris PT, Ho, Stephanie, Mok, Myth TS, Lo, Ivan FM
Format: Article
Language:English
Subjects:
Angiomyolipoma - genetics
China
Female
Genotype
Genotype/phenotype correlations
Humans
Intellectual Disability
Kidney Neoplasms
Male
Mutation
Mutation analysis
Phenotype
Pregnancy
Rhabdomyoma - genetics
Tuberous Sclerosis - genetics
Tuberous Sclerosis - pathology
Tuberous sclerosis complex
Tuberous Sclerosis Complex 1 Protein - genetics
Tuberous Sclerosis Complex 2 Protein - genetics
Tumor Suppressor Proteins - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder with autosomal dominant inheritance. We performed mutation analyses on 123 Chinese patients with “definite TSC” according to the latest diagnostic criteria. Pathogenic / likely-pathogenic variants were identified in 72.2% of all index patients (70/97), in which 35.7% (25/70) had TSC1 variants and 64.3% (45/70) had TSC2 variants. 84.5% (82/97) cases were sporadic and 15.5% (15/97) cases were familial. 62 unique variants were reported, in which 41.9% (26/62) were novel. Male patients had significantly more subependymal nodules (p=0.029) than females, whereas renal angiomyolipoma (p=0.032) occurred predominantly in females. Sporadic cases also had more renal angiomyolipoma (p=0.004), cortical tubers (p=0.008), hypopigmented macules (p=0.018) and fibrous cephalic plaques (p=0.028) than cases with known inheritance. Patients with TSC2 pathogenic variants were more likely to have mental retardation (p
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2022.104573