NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.

doi:10.1093/hmg/ddaa237

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Article

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.

Human molecular genetics - 6 Jan 2021

Nistala Harikiran, Dronzek John, Gonzaga-Jauregui Claudia, Chim Shek Man, Rajamani Saathyaki, Nuwayhid Samer, Delgado Dennis, Burke Elizabeth, Karaca Ender, Franklin Matthew C, Sarangapani Prasad, Podgorski Michael, Tang Yajun, Dominguez Melissa G, Withers Marjorie, Deckelbaum Ron A, Scheonherr Christopher J, Gahl William A, Malicdan May C, Zambrowicz Brian, Gale Nicholas W, Gibbs Richard A, Chung Wendy K, Lupski James R, Economides Aris N

Abstract excerpt

Neurodevelopmental disorder with microcephaly, hypotonia and variable brain anomalies (NMIHBA) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by global developmental delay and severe intellectual disability. Microcephaly, progressive cortical atrophy, cerebellar hypoplasia and delayed myelination are neurological hallmarks in affected individuals. NMIHBA is caused by...

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PMID: 33105479
DOI: 10.1093/hmg/ddaa237
PMCID: PMC7788287

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