Author:
Yang Huanhuan,Huang Jun,Zheng Hao,Zhang Yunfan,Zhang Yuanzhen,Liu Wei,Wu Jinrong,Chen Xiaobin,Lin Jinfeng,Ni Yanna,Nie Xiaojing
Abstract
Abstract
Background
1P36 deletion syndrome is recognized as the most common terminal microdeletion syndrome in humans, characterized by early developmental delay and consequent intellectual disability, seizure disorder, and distinctive facial features. Variable deletion locations may attributed to phenotypic variability. However, the abnormal phenotypes of hematology are rarely reported in 1P36 deletion syndrome patients.
Case presentation
We present a case of postnatal intellectual disability accompanied by pancytopenia. Copy number variation analysis revealed a pathogenic deletion in 1p36.331p36.32 with a deletion size of 2.21 Mb. Following successful treatment with glucocorticoids, the patient was diagnosed with immuno-related hemocytopenia (IRH).
Discussion
The patient experienced IRH, an uncommon characteristic of 1p36 deletion syndrome. The deletion fragment of 1p36.33-p36.32, particularly the loss of GNB1 gene, has been associated with the development of pancytopenia. Genotype-phenotype correlations are valuable in identifying the genes responsible for various clinical characteristics of the syndrome by associating phenotypic variation with specific genes located within the chromosome deletion region. Genome sequencing is recommended in cases where clinical manifestations indicate the presence of a genetic disorder but pose diagnostic challenges.
Funder
National Natural Science Foundation of China
Science and Technology Innovation Project of Fujian Province
Key Project of Social Development of Fujian Province of China
Foundation of The 900th Hospital of Joint Logistic Team
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics