A Case of <scp>CACNA1I</scp> ‐Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum

Recently, gain- or loss-of-function variants in the calcium voltage-gated channel subunit alpha1I gene (CACNA1I) have been shown to cause neurodevelopmental disorders. As only 10 cases have been reported to date, clinical information remains limited. This article describes a patient carrying a previously identified CACNA1I variant (NM_021096.4: c.2579T>A, p.Ile860Asn). Notably, our patient exhibited previously unreported clinical findings resembling those observed in disorders associated with other CACNA1 family members, suggesting that these features may be characteristic of this disorder. Brain MRI revealed previously unreported excess iron accumulation in the globus pallidus and substantia nigra. These findings indicate that this disorder may be part of the spectrum of neurodegeneration with brain iron accumulation.

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Journal
Clinical Genetics
Published
2025-10-28
DOI
https://doi.org/10.1111/cge.70098
Primary Topic
Neurological diseases and metabolism
Type
article
Field-Weighted Citation Impact
0.00

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article

A Case of CACNA1I ‐Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum

Rino Sugiyama, Hiroyuki Maki, Yûji Takahashi, Hirofumi Komaki et al.
Clinical Genetics
Neurological diseases and metabolism
article

A Case of CACNA1I ‐Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum

Rino Sugiyama, Hiroyuki Maki, Yûji Takahashi, Hirofumi Komaki, Masamune Sakamoto, Naomichi Matsumoto, Takashi Saito, Noriko Sato, Hidehiro Mizusawa
article en

Abstract

Recently, gain- or loss-of-function variants in the calcium voltage-gated channel subunit alpha1I gene (CACNA1I) have been shown to cause neurodevelopmental disorders. As only 10 cases have been reported to date, clinical information remains limited. This article describes a patient carrying a previously identified CACNA1I variant (NM_021096.4: c.2579T>A, p.Ile860Asn). Notably, our patient exhibited previously unreported clinical findings resembling those observed in disorders associated with other CACNA1 family members, suggesting that these features may be characteristic of this disorder. Brain MRI revealed previously unreported excess iron accumulation in the globus pallidus and substantia nigra. These findings indicate that this disorder may be part of the spectrum of neurodegeneration with brain iron accumulation.

Clinical GeneticsVol. 109(4)
Tokyo Medical Center (JP), Yokohama City University Hospital (JP), National Center of Neurology and Psychiatry (JP), Tokyo National Hospital (JP), Yokohama City University (JP)
Japan Agency for Medical Research and Development, Ministry of Health, Labour and Welfare, Japan Society for the Promotion of Science
Openalex Percentile: Top 61%
Neurological diseases and metabolism
DOIOpen Access PDFOpenAlex
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A Case of <scp>CACNA1I</scp> ‐Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum — Rino Sugiyama, Hiroyuki Maki, et al. · Clinical Genetics (2025) | TGRS Research Map | TGRS