Rett-like Syndrome in a Pediatric Patient-A Challenging Diagnosis
Journal of pediatric neurology(2020)
摘要
Neurodevelopmental disorders with features overlapping Rett's syndrome frequently remain unexplained in patients without disease-causing variants in MECP2. Variants in IQSEC2 frequently cause nonsyndromic X-linked intellectual disability (XLID), although de novo variants may cause a severe syndrome that resembles Rett and Angelman's syndrome. We report a 7-year-old girl presenting severe neurodevelopmental delay, stereotypic hand movements, hypotonia, autistic-like features, inappropriate laughing/screaming spells, and symmetrical hypomyelination. A whole exome sequencing detected a novel de novo heterozygous truncating variant within the IQSEC2 gene. Variants of IQSEC2 should be considered in patients with Rett-Angelman phenotype spectrum and autistic features when those causes were excluded.
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关键词
whole exome sequencing,IQSEC2,mental retardation,X-linked
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