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Article

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.

European journal of human genetics : EJHG - 1 Mar 2021

Appelhof Bart, Wagner Matias, Hoefele Julia, Heinze Anja, Roser Timo, Koch-Hogrebe Margarete, Roosendaal Stefan D, Dehghani Mohammadreza, Mehrjardi Mohammad Yahya Vahidi, Torti Erin, Houlden Henry, Maroofian Reza, Rajabi Farrah, Sticht Heinrich, Baas Frank, Wieczorek Dagmar, Jamra Rami Abou

Abstract excerpt

Pontocerebellar hypoplasia (PCH) describes a group of rare heterogeneous neurodegenerative diseases with prenatal onset. Here we describe eight children with PCH from four unrelated families harboring the homozygous MINPP1 (NM_004897.4) variants; c.75_94del, p.(Leu27Argfs*39), c.851 C > A, p.(Ala284Asp), c.1210 C > T, p.(Arg404*), and c.992 T > G, p.(Ile331Ser). The homozygous p.(Leu27Argfs*39) change is...

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PMID: 33168985
DOI: 10.1038/s41431-020-00749-x
PMCID: PMC7940488

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