P302: Expanding the genotype, phenotype, and natural history of individuals who have ASPM variants

Genetics in Medicine Open 2026 Open access

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Authors: Vahagn Giulumian, Trey Lee Orndorff, Beverly Nelson, Helga V. Toriello, Dena R. Matalon, Melanie A. Manning, Dong Li, Elizabeth J. K. Bhoj, Andrew K. Sobering
DOI: 10.1016/j.gimo.2026.103796
Cited by: 0

Abstract

ASPM–primary microcephaly (ASPM-MCPH) is a heterogeneous condition marked by an occipitofrontal circumference (OFC) greater than 3 standard deviations (SDs) below the mean for age and sex with findings typically present at birth. The condition is characterized by a lack of other congenital anomalies with variable neurodevelopmental delay. Biallelic pathogenic variants in ASPM (Abnormal spindle-like microcephaly gene) cause ASPM-MCPH. ASPM localizes to mitotic spindle poles and contributes to proper spindle orientation, centrosome function, and neuroepithelial organization.

Fields of Study & Subjects

Genomics and Rare Diseases Genetic Associations and Epidemiology Genetics and Neurodevelopmental Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103796–103796
Publication date
1 January 2026
Language
EN