A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.
Jia W Tan, Matheus Vernet Machado Bressan Wilke, Deepak Panwar et al.
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Case in brief
A patient presented with midface hypoplasia, partial hearing impairment, nephrocalcinosis, and elliptocytosis, consistent with the multisystem disorder MFHIEN. Genetic analysis revealed a heterozygous de novo missense variant in AMMECR1 (NM_015365.3:c.649G>A p.(Val217Met)). The clinical features aligned with previously reported cases, reinforcing the association of missense variants with MFHIEN.
Diagnostic / clinical pearl
Clinicians should consider the potential pathogenicity of missense variants in AMMECR1 when evaluating patients with features of MFHIEN, as this case supports their relevance in the disorder.
Why it matters
This case highlights the need for comprehensive phenotyping and hematologic evaluation in diagnosing rare multisystem disorders, particularly when genomic data suggests a pathogenic variant.