Published online Jun 6, 2023. doi: 10.12998/wjcc.v11.i16.3891
Peer-review started: March 14, 2023
First decision: March 28, 2023
Revised: April 6, 2023
Accepted: April 14, 2023
Article in press: April 14, 2023
Published online: June 6, 2023
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is a rare, autosomal, dominant neurological disorder caused by mutations in the ZMYM2 gene. To date, the clinical and functional characteristics of the novel ZMYM2 mutation c.2090_2091del have not yet been reported.
The patient was an 18.5-mo-old Chinese boy with motor and language delay, microcephaly, facial dysmorphism, moderate malnutrition, single palmar crease on the left hand, synpolydactyly of the right foot, hypotonia and feeding pr
We performed a systematic literature review to identify and characterize NECRC. Substantial evidence from the literature indicated that patients with ZMYM2 gene mutation showed different degrees of intellectual disability, motor and language retardation, facial dysmorphism, and a few had congenital heart defects, kidney and urinary tract abnormalities. Early diagnosis and prompt management with comprehensive rehabilitation training are beneficial, but may not improve long-term outcomes.
Core Tip: We describe a patient with neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities caused by ZMYM2 mutation. Bioinformatics analysis suggested the presence of a novel complex heterozygous variant in the ZMYM2 gene.