RESUMEN
OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Rubinstein-Taybi syndrome (RSTS).@*METHODS@#A child who was admitted to the Children's Hospital of Soochow University on October 3, 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected. The child was subjected to whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing of his family members and bioinformatic analysis.@*RESULTS@#The patient, a 9-year-and-４-month-old boy, had manifested unique facies, microcephaly, broad toes, growth retardation, and intellectual impairment. WES revealed that he has harbored a heterozygous c.3604G>T (p.E1202*) variant in exon 20 of the EP300 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. The variant was not found in the Shenzhou Genome data Cloud, ExAC, 1000 Genomes and gnomAD databases．Analysis with SIFT, PolyPhen-2 and CADD online software has predicted the variant to be harmful. Based on the guidelines formulated by the American College of Medical Genetics and Genomics, the variant was rated as pathogenic (PVS1＋PS2＋PM2_Supporting) .@*CONCLUSION@#The heterozygous c.3604G>T variant of the EP300 gene probably underlay the RSTS type 2 in this child. Above finding has also expanded the variation spectrum of the EP300 gene.
Asunto(s)
Niño , Humanos , Masculino , Biología Computacional , Proteína p300 Asociada a E1A/genética , Exones , Cara , Facies , Síndrome de Rubinstein-Taybi/genéticaRESUMEN
Rubinstein-Taybi Syndrome is a rare genetic disorder with characteristic features including downward slanting palpebral fissures, broad thumbs and halluces, and mental retardation. Systemic features may involve cardiac, auditory, ophthalmic, endocrine, nervous, renal and respiratory systems. This syndromeis sporadic in nature and has been linked to microdeletion at 16p 13.3 encoding CREB-binding protein gene [CREBBP]. We report a 15-years-old girl, a known case of chronic renal failure, with downward slanting palpebral fissures towardthe ears, hypertelorism, short stature, beaked nose, micrognathia, strabismus, dental anomalies, large toes, broad thumbs, and mental retardation
Asunto(s)
Humanos , Femenino , Discapacidad Intelectual , Cromosomas Humanos Par 16 , Deleción Cromosómica , Proteína de Unión a CREB , Síndrome de Rubinstein-Taybi/genéticaRESUMEN
Breve relato das características clínicas e histológicas dos quelóides, sua diferenciaçäo das cicatrizes hipertróficas e os vários métodos de tratamento