Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language (NEDMIAL) Due to DHX30 Mutations: First Indian Report of Two Cases
Year: 2024
Type: article
Study design: Case Report
Abstract: First Indian Report of Two CasesDear Editor, An 18-month-old boy presented with global developmental delay predominant in the motor and language domains.At this age, he was able to hold the neck and turn from supine to prone partially, but could not sit unsupported.He attained mouthing and could grasp a toy when placed in his hands, but could not reach out or transfer them between his hands.He had attained cooing, followed by monosyllables, and had social smile and stranger anxiety.He was first born to nonconsanguineously married parents.He had a delayed cry at birth (cried after physical stimulation), but there was no history of neonatal encephalopathy, seizures, respiratory distress, or hypoglycemia.He was initiated on breastfeeding immediately after birth.On examination, he had microcephaly, wide intercanthal distance, upturned nose, prominent columella, mild retrognathia, stubby hand, tapering fingers, flat feet [Figure 1a-d], central hypotonia, normal fundi, and hand stereotypies in the form of slow, writhing movements at the wrist, intermittent hand flapping, and frequent rubbing of the face.He was evaluated for a genetic etiology of developmental delay.Mass spectrometry from blood and urine was normal.Neuroimaging showed nonspecific hyperintensities in the periventricular and deep white matter of bilateral frontoparietal regions.Whole exome analysis showed a heterozygous, missense variation c.2344C>T in exon 15 of DHX30 gene located on chromosome 3, resulting in the amino acid substitution of tryptophan for arginine at the codon 782 (p.Arg782Trp), suggestive of neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL).The variant was confirmed by Sanger sequencing and was not detected in the parents.It was reported as pathogenic in the ClinVar database.The in silico predictions of the variant are damaging by SIFT and MutationTaster2 software.
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4401633651