Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations.
10.7499/j.issn.1008-8830.2501013
- Author:
Ying JIN
1
;
Meng-Qiu LI
1
;
Yan-Ling YANG
1
Author Information
1. Children's Medical Center, Peking University First Hospital, Beijing 102627, China.
- Publication Type:English Abstract
- Keywords:
Child;
Coffin-Siris syndrome type 3;
Developmental delay;
Distinctive facial feature;
SMARCB1 gene
- MeSH:
Child, Preschool;
Humans;
Male;
Abnormalities, Multiple/genetics*;
Chromosomal Proteins, Non-Histone/genetics*;
Ear/abnormalities*;
Face/abnormalities*;
Hand Deformities, Congenital/genetics*;
Intellectual Disability/genetics*;
Micrognathism/genetics*;
Mutation;
Neck/abnormalities*
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(7):870-874
- CountryChina
- Language:Chinese
-
Abstract:
Patient 1, a 3-year-6-month-old male, presented with feeding difficulties and delayed motor development. He exhibited poor responsiveness at birth, weak crying, intellectual and motor delays, low immunity, recurrent respiratory infections, hypotonia of the limbs, and distinctive facial features (low-set ears, double chin, and high arched palate), as well as a single transverse palmar crease on the right hand. Genetic testing revealed a c.1096C>T heterozygous variant in the SMARCB1 gene. Patient 2, a 3-year-old male, presented with developmental delay and distinctive facial features. Genetic testing identified the same pathogenic mutation as in Patient 1. The two patients are unrelated, and clinical phenotyping and genetic testing confirmed both cases as Coffin-Siris syndrome type 3. Coffin-Siris syndrome is a rare genetic disorder, and early genetic testing can aid in diagnosis.
