Biallelic CAV1 null variants induce Congenital Generalized Lipodystrophy with achalasia

CONCLUSIONS: The CAV1 null variant investigated herein leads to an autosomal recessive congenital lipodystrophy syndrome. Loss of caveolin-1 and/or caveolae induces specific manifestations including achalasia which requires specific management. Overlapping phenotypic traits between the different CAV1-related diseases require further studies.PMID:34643546 | DOI:10.1530/EJE-21-0915

Source: European Journal of Endocrinology - October 13, 2021 Category: Endocrinology Authors: Asuman Nur Karhan Jamila Zammouri Martine Auclair Emilie Capel Feramuz Demir Apayd ın Fehmi Ate ş Marie-Christine Verpont Jocelyne Magre Bruno F ève Olivier Lascols Yusuf Usta Isabelle J éru Corinne Vigouroux Source Type: research