NR4A2 Hub
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quick-share brief

For clinicians

A one-page brief intended to be handed to a new specialist before an appointment. Cites primary literature where possible. Not a substitute for the full clinical record.

diagnosis

variant
NM_006186.4:c.325dup p.(Gln109ProfsTer3). Classified pathogenic, heterozygous. Reported by SA Pathology on 3 July 2025.
confirmation
Confirmed de novo via trio exome analysis.
co-occurring finding
622 kb 16p11.2 interstitial deletion, inherited. Included so the full picture is on one page.

current phenotype

developmental
Moderate global developmental delay, autism spectrum disorder level 3, and intellectual disability.
motor
Delayed early milestones (sitting at 16 months, walking at 19 months). Relative macrocrania. Ongoing motor coordination challenges.
language
Severe speech apraxia and language impairment. Uses Proloquo2Go for AAC. Spoken vocabulary is steadily expanding, currently stringing two-word sentences.
behaviour
ADHD with emotional regulation challenges. Bubbly, affectionate, and strongly motivated by observing peers.
seizures
History of febrile convulsions.
current medications
Methylphenidate (Ritalin) 5 mg twice daily. Clonidine half tablet at night. Levodopa trial commenced 21 February 2026.

active therapies

Regular multidisciplinary team: speech pathology, occupational therapy, and an early intervention / autism educator.

School supports: on-site therapy at his current childcare centre. Mid-year primary school transition is in active planning with school-facilitated support.

recent literature

The research feed is updated daily from PubMed for NR4A2 and NURR1. High-relevance papers are summarised in plain English by a local LLM, with a direct link back to the source abstract.