NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.

Purvi Majethia, Shivani Mishra, Lakshmi Priya Rao, Raghavendra Rao, Anju Shukla

European journal of medical genetics 2021 Sep

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Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2; MIM# 618321), caused by biallelic pathogenic variants in the NAD(P)HX dehydratase (NAXD) is a rare metabolite repair disorder. It is characterized by progressive neurological deterioration usually associated with a febrile illness. The other common findings include skin lesions, elevated serum or cerebrospinal fluid lactate levels, and brain neuroimaging abnormalities. Currently, variants in NAXD have been reported in eight unrelated individuals including six truncating and six missense variants. We report on an additional individual with characteristic findings of PEBEL2, and an additional finding of sparse scalp hair. A novel missense variant c.301G > A, p.(Ala101Thr) in a homozygous state was identified through exome sequencing. This study adds to the phenotypic and mutational spectrum of PEBEL2. We review the existing phenotypic and genotypic information for the individuals with this neurometabolic condition. Copyright © 2021. Published by Elsevier Masson SAS.

Citation

Purvi Majethia, Shivani Mishra, Lakshmi Priya Rao, Raghavendra Rao, Anju Shukla. NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature. European journal of medical genetics. 2021 Sep;64(9):104266