Original Article
Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene
Wang Li, Li Jingjing, Xu Jinghan, Xu Yanlei, Wang Junbo, Feng Yin, Kong Xiangdong
Published 2023-01-10
Cite as Chin J Med Genet, 2023, 40(1): 1-6. DOI: 10.3760/cma.j.cn511374-20211117-00915
Abstract
ObjectiveTo explore the clinical and genetic characteristics of three children with KBG syndrome.
MethodsClinical data of the three children from two families who have presented at the First Affiliated Hospital of Zhengzhou University between October 2019 and September 2020 and their family members were collected. Trio-whole exome sequencing (trio-WES) and Sanger sequencing were carried out.
ResultsAll children had feeding difficulties, congenital heart defects and facial dysmorphism. The sib pair from family 1 was found to harbor a novel de novo heterozygous c. 6270delT (p.Q2091Rfs*84) variant of the ANKRD11 gene, whilst the child from family 2 was found to harbor a novel heterozygous c. 6858delC (p.D2286Efs*51) variant of the ANKRD11 gene which was inherited from his mother who had a mild clinical phenotype.
ConclusionThe heterozygous frameshift variants of the ANKRD11 gene probably underlay the disease in the three children. Above findings have enriched the spectrum of the ANKRD11 gene variants.
Key words:
KBG syndrome; ANKRD11 gene; Trio-whole exome sequencing; Novel variant
Contributor Information
Wang Li
Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Li Jingjing
Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Xu Jinghan
Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Xu Yanlei
Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Wang Junbo
Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Feng Yin
Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Kong Xiangdong
Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
