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Table 1 Clinical features in 25 individuals bearing pathogenic DHX30 variants and frequency of these features in previously reported individuals

From: Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

DHX30 variant Heterozygous missense variants within a HCM
(this study)
p.(Ala734Asp) mosaic
(this study)
Haploinsufficiency/protein truncating variants
(this study)
Homozygous p.(Arg725His)
(this study)
Heterozygous p.(Arg908Gln)
(this study)
Heterozygous missense variants within a HCM
(previous studies: Lessel et al. 2017 and Cross et al. 2020)
Sex 11 females/7 males Female 1 female/3 males Male Female 8 females/6 males
Intellectual disability 18/18 + 4/4 ? 13/13
Speech ability 14/18 non-verbal
4/18 single words
Simple sentences 20 words to normal speech ability ? Normal speech ability 11/13 non-verbal
2/13 single words
Motor development delay 18/18 + 4/4 mild + 14/14
Muscular hypotonia 17/18 + 3/4 + 14/14
Gait abnormalities 10/18 no independent walking
8/18 ataxic
Ataxic gait 0/4 no independent walking
3/4 ataxic gait
? Ataxic gait 7/13 no independent walking
6/13 ataxic gait
Feeding difficulties 15/18 + 1/4 + 11/14
Microcephaly 13/15 + 0/4 7/10
Joint hypermobility 13/18 + 1/3 6/14
Brain MRI anomalies 11/17 2/3 + + 10/14
Sleep disturbance 8/18 + 2/3 + 7/12
Strabismus 8/18 2/4 + 6/14
Autistic features 4/14 + 0/3 ? 7/12
Seizures 3/18 + 2/3 Severe 3/14
  1. +, present; −, absent; ?, too young to evaluate; NA, unkown