A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.

doi:10.1172/JCI141587

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Article

A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.

The Journal of clinical investigation - 15 Dec 2021

Whittaker Danielle E, Oleari Roberto, Gregory Louise C, Le Quesne-Stabej Polona, Williams Hywel J, Torpiano John G, Formosa Nancy, Cachia Mario J, Field Daniel, Lettieri Antonella, Ocaka Louise A, Paganoni Alyssa Jj, Rajabali Sakina H, Riegman Kimberley Lh, De Martini Lisa B, Chaya Taro, Robinson Iain Caf, Furukawa Takahisa, Cariboni Anna, Basson M Albert, Dattani Mehul T

Abstract excerpt

The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription factor PTF1A, which controls GABAergic fate in the spinal cord and neurogenesis in the hypothalamus. Here, we report a recessive syndrome associated with PRDM13 mutation. Patients exhibited intellectual disability, ataxia with cerebellar hypoplasia,...

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PMID: 34730112
DOI: 10.1172/JCI141587
PMCID: PMC8670848

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