Abstract
A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The initial report of five adult patients with WASF1 variants was the only previous report regarding variants of this gene; this is the second such report, reaffirming that rare but recurrent truncating variants of WASF1 are associated with severe neurodevelopmental disorders.
Highlights
A recurrent de novo pathogenic variant of WAS protein family member 1 (WASF1), NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features
The initial report of five adult patients with WASF1 variants was the only previous report regarding variants of this gene; this is the second such report, reaffirming that rare but recurrent truncating variants of WASF1 are associated with severe neurodevelopmental disorders
In 2018, the WAS protein family member 1 (WASF1) gene was identified as being responsible for neurodevelopmental disorder with absent language and variable seizures (NEDALVS; MIM # 618707)[1]
Summary
Shimojima Yamamoto[1,2], Tomoe Yanagishita[3], Hisako Yamamoto[4], Yusaku Miyashita[5,6], Yoshihiro Asano[5], Yasushi Sakata[5] and Toshiyuki Yamamoto. A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The 6-year-old female patient had been delivered at 38 weeks of gestation, with a birth weight of 3585 g (90th–97th percentile), a length of 49.5 cm (50th–75th percentile), and an occipitofrontal circumference (OFC) of 35.2 cm (90th–97th percentile); the delivery was performed by caesarian section due to breech position. The patient’s height, weight, and OFC are 110 cm (25–50th percentile), 19.2 kg (25–50th percentile), and 49.5 cm (10–25th percentile), respectively She still cannot speak meaningful words, but she has gradually become able to understand the spoken language of others and is interested in letters. Hypotonia History of regression Wide-based gait with poor balance High pain tolerance
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