Gulcin Akinci, Saif Alyaarubi, Nivedita Patni, Nadia Alhashmi, Azza Al-Shidhani, Flavia Prodam, Nancy Gagne, Funmbi Babalola, Aisha Al Senani, Kavitha Muniraj, Solaf M Elsayed, Marianna Beghini, Basak Ozgen Saydam, Moosa Allawati, Madhumati S Vaishnav, Ender Can, Ilgin Y Simsir, Ekaterina Sorkina, Fatma Dursun, Clemens Kamrath, Umit Cavdar, Partha P Chakraborty, Ozlem Akgun Dogan, Aliya Al Hosin, Ashwaq Al Maimani, Nil Comunoglu, Ahmed Hamed, Tea Huseinbegovic, Thomas Scherer, Jacqueline Curtis, Rebecca J Brown, Haluk Topaloglu, Vinaya Simha, Martin Wabitsch, Beyhan Tuysuz, Elif A Oral, Baris Akinci, Abhimanyu Garg
Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44). Myopathy with elevated serum creatine kinase levels (346-3325 IU/L) affected all of them (38/38)...
January 17, 2024: American Journal of Medical Genetics. Part A