High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

• Published in: Balkan medical journal Vol. 41; no. 2; pp. 97 - 104
• Main Authors: Bozhinovski, Gjorgji, Terzikj, Marija, Kubelka-Sabit, Katerina, Plaseska-Karanfilska, Dijana
• Format: Journal Article
• Language: English
• Published: Turkey Galenos Yayinevi Tic. Ltd 01.03.2024; Aves Yayincilik Ltd. STI; Galenos Publishing; Galenos Publishing House
• Subjects: Abnormalities, Multiple - epidemiology; Abnormalities, Multiple - genetics; Abortion, Spontaneous - etiology; Abortion, Spontaneous - genetics; Case-Control Studies; Causes of; Cerebellum - abnormalities; Chromosomes; Cohort Studies; European People; Eye Abnormalities - epidemiology; Eye Abnormalities - genetics; Female; Fetuses; Gene mutations; Genes; Genetic aspects; Health aspects; Humans; Identification and classification; Incidence; Kidney Diseases, Cystic - epidemiology; Kidney Diseases, Cystic - genetics; Miscarriage; Original; Pregnancy; Retina - abnormalities; Womens health; North Macedonia

The fetal monogenic causes of early pregnancy losses (EPLs) are mainly unknown, with only a few articles on the subject published. In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of -related Joubert syndrome (JS) in three EPLs from two couples an...