A case of autosomal dominant intellectual disability type 21 with CTCF mutations
10.16352/j.issn.1001-6325.2025.12.1639
- VernacularTitle:一例常染色体显性遗传智力障碍21型患者携带CTCF突变
- Author:
Juan DING
1
;
Mingsheng MA
Author Information
1. 中国医学科学院 北京协和医学院 北京协和医院 儿科,北京 100730
- Keywords:
intellectual disability;
CCCTC binding factor(CTCF);
microcephaly;
feeding difficulty
- From:
Basic & Clinical Medicine
2025;45(12):1639-1642
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical characteristics of autosomal dominant intellectual disability type 21(MRD21)related with CCCTC-binding factor(CTCF)mutations.Methods The clinical data of an outpatient with CTCF mutations,laboratory and genetic test results was retrospectively collected,and relevant literatures were re-viewed.Results A 6-year-old male patient had feeding difficulties during the neonatal period and has experienced constipation since infancy.He has exhibited global developmental delay since early childhood,characterized by intel-lectual and language deficits,as well as autism-like behaviors.There is no history of epileptic seizures.Brain magnet-ic resonance imaging and electroencephalography findings were normal.Physical examination revealed poor eye con-tact,microcephaly and no facial dysmorphism.Whole exome sequencing confirmed by Sanger sequencing detected a de novel heterozygous mutation in CTCF:c.1087-2A＞G.His parents did not have this mutation.Conclusions The clinical manifestations of MRD21 lack specificity.Intellectual disability is the most frequent finding.Other presenta-tions may also include microcephaly,digestive system symptoms like feeding difficulties and constipation,as well as behavioral abnormalities,which are also relatively common.Genetic testing aids in confirming the diagnosis.
