Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms
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REVIEW ARTICLE
Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms Yi‑Rou Wang1 · Nai‑Xin Xu3 · Jian Wang1,2 · Xiu‑Min Wang1,2 Received: 3 March 2019 / Accepted: 7 August 2019 © Children’s Hospital, Zhejiang University School of Medicine 2019
Abstract Background Kabuki syndrome (KS), is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methylase (KMT2D) or an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A). The characteristics in patients with KS have not yet been well recognized. Data sources We used databases including PubMed and Google Scholar to search for publications about the clinical features and the etiology of Kabuki syndrome. The most relevant articles to the scope of this review were chosen for analysis. Results Clinical diagnosis of KS is challenging in initial period, because many clinical characteristics become apparent only in subsequent years. Recently, the genetic and functional interaction between KS-associated genes and their products have been elucidated. New clinical findings were reported including nervous system and intellectual performance, endocrine-related disorders and immune deficiency and autoimmune disease. Cancer risks of Kabuki syndrome was reviewed. Meanwhile, we discussed the Kabuki-like syndrome. Digital clinical genetic service, such as dysmorphology database can improve availability and provide high-quality diagnostic services. Given the significant clinical relevance of KS-associated genes and epigenetic modifications crosstalk, efforts in the research for new mechanisms are thus of maximum interest. Conclusions Kabuki syndrome has a strong clinical and biological heterogeneity. The main pathogenesis of Kabuki syndrome is the imbalance between switch-on and -off of the chromatin. The direction of drug research may be to regulate the normal opening of chromatin. Small molecule inhibitors of histone deacetylases maybe helpful in treatment of mental retardation and reduce cancer risk in KS. Keywords Kabuki syndrome · KMT2D · KDM6A · Kabuki-like syndrome · Cancer risk
Introduction Kabuki syndrome (Niikawa-Kuroki syndrome, Kabuki make-up syndrome, KS, OMIM #147920) first diagnosed in 1981 in Japan, is an uncommon congenital malformation syndrome [1]. KS is featured with characteristic facial features, skeletal abnormalities, postnatal growth retardation, * Xiu‑Min Wang [email protected] 1
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China
2
Department of Genetics, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China
3
Huaxi Medical College School of Sichuan University, Sichuan, China
mental retardation and a variable range of abnormality such as auditory dysfunction, cardiac defects and dermatoglyphic abnormalities, genitourinary, and ophthalmologic anomalies (including coloboma). The facial features of KS patients are identified by long eyelid
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