PDF(Pubmed)
Abstract：
Pathogenic variation of the MECP2 gene presents mostly as Rett syndrome in females and is extremely rare in males. Most male patients with MECP2 gene mutation show MECP2 duplication syndrome.
Here we report a rare case in a 10-month-old boy with a hemizygous insertion mutation in MECP2 as NM_001110792, c.799_c.800insAGGAAGC, which results in a frameshift mutation (p.R267fs*6). The patient presented with severe encephalopathy in the neonatal period, accompanied by severe development backwardness, hypotonia, and ocular and oropharyngeal dyskinesia. This is the first report of this mutation, which highlights the phenotype variability associated with MECP2 variants.
This case helps to expand the clinical spectrum associated with MECP2 variants. Close attention should be paid to the growth and development of patients carrying a MECP2 variant or Xq28 duplication. Early interventions may help improve symptoms to some certain extent.
Here we report a rare case in a 10-month-old boy with a hemizygous insertion mutation in MECP2 as NM_001110792, c.799_c.800insAGGAAGC, which results in a frameshift mutation (p.R267fs*6). The patient presented with severe encephalopathy in the neonatal period, accompanied by severe development backwardness, hypotonia, and ocular and oropharyngeal dyskinesia. This is the first report of this mutation, which highlights the phenotype variability associated with MECP2 variants.
This case helps to expand the clinical spectrum associated with MECP2 variants. Close attention should be paid to the growth and development of patients carrying a MECP2 variant or Xq28 duplication. Early interventions may help improve symptoms to some certain extent.
摘要：
背景：MECP2基因的致病变异在女性中主要表现为Rett综合征，在男性中极为罕见。大多数MECP2基因突变的男性患者表现为MECP2重复综合征。
方法：在这里，我们报告了一个10个月大的男孩的罕见病例，该男孩在MECP2中具有半合子插入突变，为NM_001110792，c.799_c.800insAGGAAGC，导致移码突变（p。R267fs*6)。该患者在新生儿期出现严重脑病，伴随着严重的发展落后，低张力,眼和口咽运动障碍.这是这种突变的第一份报告，这突出了与MECP2变体相关的表型变异性。
结论：该病例有助于扩大与MECP2变异相关的临床范围。应密切注意携带MECP2变体或Xq28重复的患者的生长和发育。早期干预可能在一定程度上帮助改善症状。
方法：在这里，我们报告了一个10个月大的男孩的罕见病例，该男孩在MECP2中具有半合子插入突变，为NM_001110792，c.799_c.800insAGGAAGC，导致移码突变（p。R267fs*6)。该患者在新生儿期出现严重脑病，伴随着严重的发展落后，低张力,眼和口咽运动障碍.这是这种突变的第一份报告，这突出了与MECP2变体相关的表型变异性。
结论：该病例有助于扩大与MECP2变异相关的临床范围。应密切注意携带MECP2变体或Xq28重复的患者的生长和发育。早期干预可能在一定程度上帮助改善症状。
