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.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cromosomas Humanos Par 9
/
Discapacidades del Desarrollo
/
Deleción Cromosómica
/
Anomalías Craneofaciales
/
Variaciones en el Número de Copia de ADN
/
Cardiopatías Congénitas
/
Discapacidad Intelectual
Límite:
Niño
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Artículo
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