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September 8, 2026Journal of Intellectual Disability ResearchOpen Access

Expanding the Clinical Spectrum of DHX30 ‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

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Authors

NTNattaporn TassanakijpanichAHAreerat HnoonualOPOradawan Plong-On

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Overview

Scoping review and case report reveals novel microtia alongside hallmark motor delays in DHX30-related disorder, highlighting an expanding clinical spectrum.

Key Points

  • To expand the clinical and genotype-phenotype understanding of DHX30-related neurodevelopmental disorder by combining whole exome sequencing analysis of a new patient with a comprehensive scoping review.
  • Performed karyotyping, chromosomal microarray, and whole exome sequencing on a proband presenting with global developmental delay and right microtia.
  • Conducted a systematic scoping review across PubMed/MEDLINE, Scopus, and Google Scholar up to April 2026, synthesizing data from 10 publications comprising 51 individuals with DHX30-related neurodevelopmental disorder.
  • Identified a de novo heterozygous pathogenic missense variant (c.1478G > A; p.Arg493His) in the proband, marking the first documented co-occurrence of DHX30-related disorder with microtia.
  • Synthesized cohort data (N=51) demonstrated that variants arise predominantly de novo, with hallmark features including motor delay (98.0%, 50/51), global developmental delay/intellectual disability (98.0%, 48/49), hypotonia (94.1%, 48/51), and feeding difficulties (74.5%, 38/51).
  • Frequent phenotypic manifestations also included ataxia (73.9%, 17/23), abnormal neuroimaging (73.5%, 36/49), absent expressive language (72.9%, 35/48), digital anomalies (60.8%, 31/51), eye anomalies (54.9%, 28/51), and autistic behaviors (54.5%, 24/44).

Cite This Study

Tassanakijpanich et al. (2026) studied this question.

synapsesocial.com/papers/6a9fd77658e84d0ff5b4620ehttps://doi.org/10.1111/jir.70169
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum2024
  2. 2Novel and Known DHX37 Variants in 46,XY DSD: Expanding the Genotypic and Phenotypic Spectrum2026
  3. 3Exome Sequencing Resolving a Complex Pediatric Neurodevelopmental Disorder After Inconclusive Prenatal Testing: A Case Report2026
  4. 4Using Whole Exome Sequencing to Identify Genetic Causes of Neurodevelopmental Disorders in a Cohort of 11 Patients: A Single Center Experience2025
  5. 5Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing2024 · 4 citations