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Rett Syndrome Genetics — RACP Paediatrics MCQ

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ModerateNeurology & DevelopmentRett Syndrome GeneticsRACP Paediatrics

A 3-year-old girl presents with developmental regression after a period of normal development to 12-18 months. She has lost purposeful hand movements (replaced by stereotypic hand-wringing), has deceleration of head growth, and gait apraxia. She has breathing irregularities. What genetic mutation is most commonly implicated?

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Correct answer: E — MECP2

Rett syndrome is caused by mutations in MECP2 (X-linked, almost exclusively affects females). It presents with a period of normal development followed by regression with loss of hand skills (hand-wringing stereotypies), language regression, gait apraxia, breathing irregularities, and acquired microcephaly.

Reference: RACP – 2024 – Paediatric Curriculum: Neurodevelopmental Disorders