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Title:

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

Document type:
Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Schönauer, Ria; Jin, Wenjun; Findeisen, Christin; Valenzuela, Irene; Devlin, Laura Alice; Murrell, Jill; Bedoukian, Emma C; Pöschla, Linda; Hantmann, Elena; Riedhammer, Korbinian M; Hoefele, Julia; Platzer, Konrad; Biemann, Ronald; Campeau, Philipp M; Münch, Johannes; Heyne, Henrike; Hoffmann, Anne; Ghosh, Adhideb; Sun, Wenfei; Dong, Hua; Noé, Falko; Wolfrum, Christian; Woods, Emily; Parker, Michael J; Neatu, Ruxandra; Le Guyader, Gwenael; Bruel, Ange-Line; Perrin, Laurence; Spiewak, Helena; Mis...     »
Abstract:
While common obesity accounts for an increasing global health burden, its monogenic forms have taught us underlying mechanisms via more than 20 single-gene disorders. Among these, the most common mechanism is central nervous system dysregulation of food intake and satiety, often accompanied by neurodevelopmental delay (NDD) and autism spectrum disorder. In a family with syndromic obesity, we identified a monoallelic truncating variant in POU3F2 (alias BRN2) encoding a neural transcription factor...     »
Journal title abbreviation:
Am J Hum Genet
Year:
2023
Journal volume:
110
Journal issue:
6
Pages contribution:
998-1007
Fulltext / DOI:
doi:10.1016/j.ajhg.2023.04.010
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37207645
Print-ISSN:
0002-9297
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann); Professur für Nephrologie (Prof. Heemann)
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