Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disease characterized by early hypotonia, and rapid progression to psychomotor development regression, pyramidal tract positivity, and spastic quadriplegia. In this report, we describe a Chinese patient with INAD who presented with hypotonia, delayed motor and language development, and subsequently improved with rehabilitation training. Genetic testing revealed that the patient had compound heterozygous gene variants, with the heterozygous c.496dupG (p.Glu166fsTer32) variant inherited from her father and the heterozygous c.2189T>G (p.Met730Arg) variant inherited from her mother. The p.Met730Arg was a novel variant. The protein structure predicts that the structural stability of the mutant protein may change, and the experimental results show that the expression of the mutant protein decrease. This study enriches the gene mutation spectrum, and improves the clinicians' diagnostic awareness of INAD.
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An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
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Genomenon, Inc, 206 E. Huron St. Suite 114, Ann Arbor, MI, 48109, USA.
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- The study focuses on PLA2G6-associated neurodegeneration (PLAN), which includes three diseases with similar symptoms, particularly highlighting infantile neuroaxonal dystrophy (INAD), a condition that affects vision and motor skills from an early age.
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Department of Biochemistry, RAK College of Medical Sciences, RAKMHSU, Ras Al-Khaimah P.O. Box 11172, United Arab Emirates.
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder affecting 1:1,000,000 children. It results from pathogenic variants in the PLA2G6 gene located on chromosome 22q13.1.
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