biostudies-literatureKumar KDepartment of Biotechnology , Ministry of Science and Technology136https://www.ebi.ac.uk/biostudies/studies/S-EPMC7318400biostudies-literatureUnknown21(1)<h4>Background</h4>Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental delay. KIAA1109, a functionally uncharacterized gene is identified as the molecular cause for Alkuraya-Kučinskas syndrome. Most of the reported mutations in KIAA1109 gene result in premature termination of pregnancies or neonatal deaths while a few mutations have been reported in surviving patients with global developmental delay and intellectual disability. To our knowledge, only three surviving patients from two families have been reported with missense variants in KIAA1109. In this study, we describe four surviving patients from two related families (a multiplex famBMC medical geneticsKIAA1109 gene mutation in surviving patients with Alkuraya-Kucinskas syndrome: a review of literature.PMC7318400BT/PR18182/BIC/101/937/2016Girimaji SCMuthusamy BKumar KBellad APrasad PfalseKIAA1109 gene mutation in surviving patients with Alkuraya-Kucinskas syndrome: a review of literature.<h4>Background</h4>Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental delay. KIAA1109, a functionally uncharacterized gene is identified as the molecular cause for Alkuraya-Kučinskas syndrome. Most of the reported mutations in KIAA1109 gene result in premature termination of pregnancies or neonatal deaths while a few mutations have been reported in surviving patients with global developmental delay and intellectual disability. To our knowledge, only three surviving patients from two families have been reported with missense variants in KIAA1109. In this study, we describe four surviving patients from two related families (a multiplex fam2020-01-01T00:00:00Z2020 Jun2026-04-08T01:50:15.266Z2020-07-03T07:03:54ZS-EPMC73184003259095410.1186/s12881-020-01074-2