Laura Lombardi1, Corinne Blanchet2, Karine Poirier1, Nicolas Lebrun3, Nicolas Ramoz3, Marie Rose Moro2, Philip Gorwood3,4, Thierry Bienvenu4,5. 1. Institut Cochin, InsermU1016. 2. Maison des adolescents, Hôpital Cochin. 3. Institut de Psychiatrie et de Neurosciences de Paris, Inserm U1266. 4. Clinique des maladies mentales et de l'encéphale, Hôpital Sainte-Anne, Université Paris-Descartes. 5. Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, Paris, France.
Abstract
BACKGROUND: Anorexia nervosa is a complex neuropsychiatric disorder presenting with life-threatening low body weight, and a persistent fear of gaining weight. To date, no whole exome sequencing was performed in male individuals with anorexia nervosa. AIM AND METHODS: Here, we performed an exome analysis in two independent families with male individuals with anorexia nervosa and found variants in the Neuronatin (NNAT) gene in both probands. To confirm our data, we carried out the screening of the NNAT gene in a cohort of 8 male and 144 female individuals with anorexia nervosa. RESULTS: Exome sequencing revealed a nonsense variant p.Trp33* in NNAT in one patient and a rare variant in the 5'UTR region of NNAT in the other patient. Screening of the NNAT gene in a cohort of 8 male and 144 female individuals with anorexia nervosa allowed to identify 11 other NNAT variants showing that 40.00% and 6.25% of male and female anorexia nervosa individuals carried a NNAT variant, respectively. Moreover, two novel missense variants were identified in female anorexia nervosa patients. CONCLUSION: Our data suggest that NNAT variants and NNAT expression changes may be associated with susceptibility to eating disorders such as anorexia nervosa.
BACKGROUND:Anorexia nervosa is a complex neuropsychiatric disorder presenting with life-threatening low body weight, and a persistent fear of gaining weight. To date, no whole exome sequencing was performed in male individuals with anorexia nervosa. AIM AND METHODS: Here, we performed an exome analysis in two independent families with male individuals with anorexia nervosa and found variants in the Neuronatin (NNAT) gene in both probands. To confirm our data, we carried out the screening of the NNAT gene in a cohort of 8 male and 144 female individuals with anorexia nervosa. RESULTS: Exome sequencing revealed a nonsense variant p.Trp33* in NNAT in one patient and a rare variant in the 5'UTR region of NNAT in the other patient. Screening of the NNAT gene in a cohort of 8 male and 144 female individuals with anorexia nervosa allowed to identify 11 other NNAT variants showing that 40.00% and 6.25% of male and female anorexia nervosa individuals carried a NNAT variant, respectively. Moreover, two novel missense variants were identified in female anorexia nervosapatients. CONCLUSION: Our data suggest that NNAT variants and NNAT expression changes may be associated with susceptibility to eating disorders such as anorexia nervosa.
Authors: Cynthia M Bulik; Jonathan R I Coleman; J Andrew Hardaway; Lauren Breithaupt; Hunna J Watson; Camron D Bryant; Gerome Breen Journal: Nat Neurosci Date: 2022-05-06 Impact factor: 28.771
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