Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
- PDF / 1,554,438 Bytes
- 6 Pages / 595.276 x 790.866 pts Page_size
- 66 Downloads / 216 Views
CASE REPORT
Open Access
Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report Wei Guo* , Yanguo Zhao, Shuwei Li, Jingqun Wang and Xiang Liu
Abstract Background: Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderate intellectual disability. Pathogenic variants in two epigenetic modifier genes, KMT2D and KDM6A, are responsible for KS1 and KS2, respectively. Case presentation: A Chinese girl had persistent neonatal hypoglycemia and Dandy-Walker variant. Whole-exome sequencing identified a novel single nucleotide deletion in KMT2D (NM_003482.3 c.12165del p.(Glu4056Serfs*10)) that caused frameshift and premature termination. The mutation was de novo. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this variant is considered pathogenic. The patient was diagnosed with KS by molecular testing. Conclusion: A single novel mutation in KMT2D was identified in a KS patients with hypoglycemia and DandyWalker variant in the neonatal stage. A molecular test was conducted to diagnose KS at an early stage. Keywords: Kabuki syndrome, Dandy-Walker malformation, Neonatal hypoglycemia, Case report
Background Kabuki syndrome (KS, MIM: 147920, 300,867) is a rare condition with an incidence of approximately 1 in 32, 000 people [1]. The syndrome is characterized by the following typical facial features: long palpebral fissures with eversion of the lateral third of the lower eyelid, arched and broad eyebrows with the lateral third displaying notching or sparseness, short columella with a depressed nasal tip and large prominent or cupped ears. In addition to distinct facial features, cardinal manifestations also include developmental delays, persistent fetal fingertip pads, infantile hypotonia, mild to moderate intellectual disability and global developmental delay. Other clinical findings have reported congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, and ocular and dental anomalies [2, 3]. Pathogenic variants * Correspondence: [email protected] Department of Neonatology, Xingtai People’s Hospital, Xingtai 054031, Hebei, China
in KMT2D and KDM6A are responsible for KS 1 (MIM: 147920) [4] and KS2 (MIM: 300867) [5], respectively. KMT2D is located on chromosome 12. Pathogenic variants of KMT2D are found in approximately 75% of KS cases [6–8], and the inheritance pattern is autosomal dominant. KDM6A is located on chromosome X and is inherited as X-linked dominant. Pathogenic variants are found in only 3–5% of KS patients [9–12]. KS is seldom diagnosed during the newborn period. First, the generally consistent features of KS, such as the typical facial features and persistent fetal finger pads, become increasingly obvious as age increases. Second, the typical facial features are less pronounced at the neonatal stage, resulting in many cases going
Data Loading...
