School of Medicine and Surgery, Faculty of Health, Universidad del Valle, Cali, Colombia.
Human Genetics, Hospital Universitario del Valle, Universidad del Valle, Cali, Colombia.
Cytogenet Genome Res. 2022;162(7):372-377. doi: 10.1159/000528735. Epub 2022 Dec 19.
Developmental and epileptic encephalopathy 70 (DEE70) is an epileptic encephalopathy associated with multiple neurological abnormalities and global developmental delay, among other characteristics. It has recently been established that it is caused by a heterozygous variant of the PHACTR1 gene, with currently four cases reported in the literature. This article presents a case report of a patient with DEE70 with a heterozygous variant in the PHACTR1 gene, who also presents a hemizygous variant in the AFF2 gene, associated with FRAXE syndrome. A phenotypic comparison is made between this case and the four other previously reported cases with variants in the PHACTR1 gene. In addition, the possible participation of the PHACTR1 and AFF2 genes in the clinical characteristics of the individual is discussed.
发育性和癫痫性脑病 70 型（DEE70）是一种与多种神经发育异常和全面发育迟缓等特征相关的癫痫性脑病。最近已经确定，它是由 PHACTR1 基因的杂合变异引起的，目前文献中报道了四例。本文报告了一例 DEE70 患者的病例，该患者 PHACTR1 基因存在杂合变异，同时 AFF2 基因存在半合子变异，与脆性 X 相关震颤-共济失调综合征（FRAXE 综合征）相关。对该病例与之前报道的四例 PHACTR1 基因突变病例进行了表型比较。此外，还讨论了 PHACTR1 和 AFF2 基因在个体临床特征中的可能参与。
