We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage who presents with a unique set of symptoms, suggesting Giant Axonal Neuropathy. He achieved independent walking at age 3 years, with frequent falling during running. Physical and neurological examinations reveal curly blond hair, generalized muscle atrophy, slow speech and difficulty swallowing solid food, foot drop, pes cavus, hammertoe deformities; reduced deep tendon reflexes, clumsy gait, impaired sense of position, and intention tremors.This comprehensive report significantly expands the clinical and mutational spectrum of Giant Axonal Neuropathy. Whole Exome Sequencing (WES) analysis revealed a novel homozygous variant (NC_000016.10(NM_022041.3):c.2T > C) in the GAN gene, confirmed by Sanger sequencing. Segregation analysis showed that the parents were heterozygous for the variant. The variant was absent in a cohort of 430 healthy individuals from the same ethnic group and in other published population databases such as GenomAD and the 1000 Genome. The clinical manifestations, segregation analysis, population study, and bioinformatics analysis collectively confirm the pathogenicity of variant.

Bita Poorshiri

Neda Jabbarpour

Mohammad Barzegar

Mortaza Bonyadi

Zakiyeh Ebadi

Neurogenetics

神经遗传学发表的研究结果有助于更好地理解神经系统正常和异常功能的遗传基础。神经遗传疾病是该杂志的主要关注点。因此，神经遗传学包括人类和其他生物体的发现，这些发现有助于了解神经疾病机制，并发表来自许多不同领域的论文，例如生物物理学、细胞生物学、人类遗传学、神经解剖学、神经化学、神经学、神经病理学、神经外科和精神病学。提交给神经遗传学的所有论文都应具有足够的直接重要性以证明紧急出版的正当性。他们应该展示新的科学成果。仅证实先前发表的研究结果的数据是不可接受的。

The journal Neurogenetics publishes research findings that contribute to a better understanding of the genetic basis of normal and abnormal functions of the nervous system. The primary focus of the journal is on neurogenetic disorders, encompassing discoveries in humans and other organisms that help elucidate the mechanisms of neurological diseases. It accepts papers from various fields, including biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery, and psychiatry. All submissions to Neurogenetics should possess sufficient direct significance to justify the urgency of publication and should present new scientific findings. Data that merely confirm previously published results are not acceptable.

《Neurogenetics》期刊发表的研究成果有助于深入理解神经系统正常与异常功能的遗传基础。该期刊主要关注神经遗传疾病，涵盖人类及其他生物体的发现，这些发现有助于揭示神经疾病的机制。期刊接受来自多个领域的论文，包括生物物理学、细胞生物学、人类遗传学、神经解剖学、神经化学、神经学、神经病理学、神经外科和精神病学。所有提交给《Neurogenetics》的论文都应具有足够的直接重要性，以证明其紧急出版的必要性，并展示新的科学成果。仅仅证实先前发表研究结果的数据是不被接受的。

Category	Quartile
医学	4
医学, 临床神经病学	4
医学, 遗传学	4

Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation

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Journal Info

Category	Quartile
GENETICS & HEREDITY	3