Clinical and genetic analysis of three children patients with Kleefstra syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 148-151, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-928378
ABSTRACT
OBJECTIVE@#To explore the genetic basis of three children with unexplained developmental delay/intellectual disability (DD/ID).@*METHODS@#Peripheral blood samples were collected from the patients and subjected to chromosomal microarray analysis (CMA).@*RESULTS@#Patient 1 was found to harbor a 190 kb deletion at 9q34.3, which encompassed most of EHMT1 (OMIM 607001), the key gene for Kleefstra syndrome (OMIM 610253). Patients 2 and 3 were siblings. CMA showed that they have shared four chromosomal copy number variations (CNVs) including a deletion at 9q34.3 which spanned 154 kb and 149 kb, respectively, and encompassed the EHMT1 and CACNA1B (OMIM 601012) genes. The remaining 3 CNVs were predicted to be with no clinical significance.@*CONCLUSION@#Microdeletions at 9q33.4 probably underlay the pathogenesis of DD/ID in the three children, for which EHMT1 may be the key gene.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Chromosomes, Human, Pair 9
/
Developmental Disabilities
/
Chromosome Deletion
/
Craniofacial Abnormalities
/
DNA Copy Number Variations
/
Heart Defects, Congenital
/
Intellectual Disability
Limits:
Child
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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