A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort
This retrospective study provides genetic data in a wide cohort of 11βOHD, and identifies c.954 + 148C > G as the most recurrent variant in our Caucasian participant recruitment. Screening of deep intronic regions, coupled with functional in vitro tools, must not be overlooked in the strategy to avoid diagnostic failure.
Authors
- Audrey Cartault
- Laëtitia Martinerie (ORCID: https://orcid.org/0000-0001-5113-6344)
- Jerome Yves Bertherat (ORCID: https://orcid.org/0000-0003-2551-3008)
- Delphine Mallet (ORCID: https://orcid.org/0000-0002-7636-6450)
- Rita Menassa (ORCID: https://orcid.org/0000-0003-0912-5080)
- Muriel Houang
- Stéphanie Espiard (ORCID: https://orcid.org/0000-0002-9584-4294)
- Catherine Pienkowski (ORCID: https://orcid.org/0000-0002-9084-0518)
- Hervé Lefèbvre (ORCID: https://orcid.org/0000-0002-6181-9648)
- Raja Brauner (ORCID: https://orcid.org/0000-0002-4456-4508)
- Yves Morel (ORCID: https://orcid.org/0000-0001-9467-2948)
- Alexandre Janin (ORCID: https://orcid.org/0000-0003-3571-003X)
- Florence Roucher‐Boulez (ORCID: https://orcid.org/0000-0001-8078-4746)
- M. Daval-Cote
- Clément Janot (ORCID: https://orcid.org/0009-0001-9336-6874)
- Jordan Teoli (ORCID: https://orcid.org/0000-0002-9681-4062)
- Jonathan Kraus Friedmann
- Ingrid Plotton (ORCID: https://orcid.org/0000-0003-2539-0087)
- Aude Brac de la Perrière (ORCID: https://orcid.org/0000-0001-6453-8326)
- Frédéric Brioude (ORCID: https://orcid.org/0000-0001-8122-760X)
- Harmony Mazoyer
- Allen Mayer
- Virginie Ribault
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Ikerbasque (ES)
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Lyon College (US)
- Université Paris Cité (FR)
- Clínica Alemana (CL)
- Centre Hospitalier Universitaire de Lille (FR)
- Centre Hospitalier Universitaire de Toulouse (FR)
- Sorbonne Université (FR)
- Hôpital Armand-Trousseau (FR)
- Sorbonne Paris Cité (FR)
- Hôpital Cochin (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospices Civils de Lyon (FR)
- Laboratoire de Biologie et Modélisation de la Cellule (FR)
- Centre Hospitalier de Vitré (FR)
- Centre Hospitalier Métropole Savoie (FR)
- Hospital Luis Calvo Mackenna (CL)
- Centre Hospitalier Universitaire de Caen Normandie (FR)
- Fondation Ophtalmologique Adolphe de Rothschild (FR)
- Institut NeuroMyoGène (FR)
- Hôpital Robert-Debré (FR)
- Institut Cellule Souche et Cerveau (FR)
- Hôpital Louis Pradel (FR)
- Bicêtre Hospital (FR)
- Université de Rouen Normandie (FR)
- Université de Caen Normandie (FR)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-08-18
- DOI
- https://doi.org/10.1210/clinem/dgaf468
- Citations
- 3
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.42