Pediatrics · Growth and Development (Milestones, Developmental Disorders)

Rett syndrome is associated with a mutation in which gene?

A MECP2 ✓
B FMR1
C UBE3A
D SHH

Correct answer: A. MECP2

Explanation

Rett syndrome is caused by loss-of-function mutations in MECP2 on Xq28. FMR1 is linked to Fragile X syndrome, UBE3A to Angelman syndrome, and SHH to holoprosencephaly. MECP2 mutations are found in over 90% of classic Rett cases.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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