A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.

doi:10.1210/clinem/dgaf468

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Article

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.

The Journal of clinical endocrinology and metabolism - 20 Feb 2026

Janot Clément, Mallet Delphine, Janin Alexandre, Bertherat Jérome, Brauner Raja, Brioude Frédéric, Cartault Audrey, Daval-Cote Mélanie, Espiard Stéphanie, Houang Muriel, Kraus Friedmann Jonathan, Lefebvre Hervé, Martinerie Laetitia, Mayer Anne, Mazoyer Harmony, Menassa Rita, Morel Yves, Pienkowski Catherine, Ribault Virginie, Plotton Ingrid, Teoli Jordan, Brac de La Perrière Aude, Roucher-Boulez Florence

Abstract excerpt

CONTEXT: Congenital adrenal hyperplasia can be due to 11β-hydroxylase deficiency (11βOHD). Sporadic reports of 11βOHD are frequent but overviews on molecular landscape in some populations are lacking. OBJECTIVE: The aim of this research was to compile a genetic landscape from an 11βOHD cohort, and to report a novel yet recurrent splice variant. METHODS: An overview of CYP11B1 variants in a cohort of 11βOHD is...

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PMID: 40827356
DOI: 10.1210/clinem/dgaf468

Genes

CYP11B1

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