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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