Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

被引:0
作者
Francesca Di Candia
Paolo Fontana
Pamela Paglia
Mariateresa Falco
Carmen Rosano
Carmelo Piscopo
Gerarda Cappuccio
Maria Anna Siano
Daniele De Brasi
Claudia Mandato
Ilaria De Maggio
Gabriella Maria Squeo
Matteo Della Monica
Gioacchino Scarano
Fortunato Lonardo
Pietro Strisciuglio
Giuseppe Merla
Daniela Melis
机构
[1] Federico II University Hospital,Pediatric Unit, Translational Medicine Department
[2] San Pio Hospital,Medical Genetics Unit
[3] Pediatric Unit,Pediatric Unit
[4] Department of Medicine,Medical Genetics Unit
[5] Surgery and Dentistry “Scuola Medica Salernitana”,Department of Pediatrics
[6] San Giovanni di Dio e Ruggi d’Aragona University Hospital,Division of Medical Genetics
[7] Cardarelli Hospital,undefined
[8] AORN Santobono-Pausilipon,undefined
[9] IRCCS Casa Sollievo della Sofferenza,undefined
来源
European Journal of Pediatrics | 2022年 / 181卷
关键词
Kabuki syndrome; Autoimmunity; Brain anomalies; Neurological features;
D O I
暂无
中图分类号
学科分类号
摘要
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10–26 years; mean age 16.9 years) with confirmed diagnosis of KS, representing the entire cohort of patients from Campania Region. Each patient performed biochemical testing and instrumental investigation. Neuro-intellectual development, cranio-facial dysmorphisms, and multisystem involvement data were collected retrospectively. For each category, type of defects and frequency of the anomalies were analyzed. Our observation shows that KS patients from Campania region have some particular and previously underscored, neurological and immunological findings. We found high prevalence of EEG’s abnormalities (43%) and MRI brain abnormalities (60%). Microcephaly resulted more common in our series (33%), if compared with major cohorts described in literature. Biochemical features of immunodeficiency and autoimmune diseases including thyroid autoimmunity, polyserositis, and vitiligo were observed with high prevalence (54.5%). Low immunoglobulins levels were a frequent finding. Lymphocyte class investigation showed significantly reduced CD8 levels in one patient.
引用
收藏
页码:171 / 187
页数:16
相关论文
共 537 条
[1]  
Niikawa N(1981)Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency J Pediatr 1981 565-569
[2]  
Matsura N(1981)A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation J Pediatr 99 570-573
[3]  
Fukushima Y(1988)Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients Am J Med Genet 31 562-569
[4]  
Ohsawa T(2019)Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms World J Pediatr 15 528-535
[5]  
Kajii T(2010)Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome Nat Genet 42 790-793
[6]  
Kuroki Y(2011)MLL2 mutation spectrum in 45 patients with Kabuki syndrome Hum Mutat 32 E2018-E2025
[7]  
Suzuki Y(2018)Dissecting KMT2D missense mutations in Kabuki syndrome patients Hum Mol Genet 27 3651-3668
[8]  
Chyo H(2018)Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review BMC Med Genet 19 31-295
[9]  
Hata A(2018)Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes Clin Genet 94 283-124
[10]  
Matsui I(2012)Deletion of KDM6A, a histonedemethylase interacting with MLL2, in three patients with Kabuki syndrome Am J Hum Genet 90 119-110