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First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants.

Archives of Iranian medicine - 1 Dec 2024

Reshadmanesh Azadeh, Dehdahsi Shima, Ahangari Fatemeh, Kahrizi Kimia, Kariminejad Ariana, Mahdavi Shokouh Sadat, Talebi Saeed, Najmabadi Hossein

Abstract excerpt

Here, we report a case with concomitant variants: a novel homozygous HERC1 gene variant and a novel heterozygous PMP22 duplication. The 2-year-old male presented with seizures, developmental delay, macrocephaly, hypotonia, unilateral hypertrophy, thoracic scoliosis, normal brain MRI, and elevated homocysteine level which normalized after treatment. Whole exome sequencing (WES) revealed a co-occurrence of a...

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Charcot-Marie-Tooth Disease
Developmental Disabilities
Exome Sequencing
Iran
Megalencephaly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myelin Proteins

Psychomotor Disorders

Ubiquitin-Protein Ligases

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Identifiers

PMID: 39891458
DOI: 10.34172/aim.31593
PMCID: PMC11786211

Genes

HERC1
PMP22

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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