De novo exonic deletion ofKDM6Ain a Chinese girl with Kabuki syndrome: A case report and brief literature review

2016 ◽  
Vol 170 (6) ◽  
pp. 1613-1621 ◽  
Author(s):  
Pu Yang ◽  
Hu Tan ◽  
Yan Xia ◽  
Qian Yu ◽  
Xianda Wei ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
De Novo ◽  
Kabuki Syndrome ◽  
Chinese Girl ◽  
Exonic Deletion

De novo malignant craniopharyngioma: case report and literature review

2010 ◽  
Vol 103 (2) ◽  
pp. 381-386 ◽  
Author(s):  
Libero Lauriola ◽  
Francesco Doglietto ◽  
Mariangela Novello ◽  
Francesco Signorelli ◽  
Nicola Montano ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
De Novo

De novo brain arteriovenous malformation after tumor resection: case report and literature review

2018 ◽  
Vol 160 (11) ◽  
pp. 2191-2197 ◽  
Author(s):  
Anna Lo Presti ◽  
Jeffrey M. Rogers ◽  
Nazih N. A. Assaad ◽  
Michael L. Rodriguez ◽  
Marcus A. Stoodley ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Arteriovenous Malformation ◽  
De Novo ◽  
Tumor Resection ◽  
Brain Arteriovenous Malformation

scholarly journals Molecular-cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review

2017 ◽  
Vol 16 (3) ◽  
pp. 3433-3438 ◽  
Author(s):  
Yuting Jiang ◽  
Ruixue Wang ◽  
Linlin Li ◽  
Lintao Xue ◽  
Shu Deng ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
De Novo ◽  
Cytogenetic Study ◽  
Molecular Cytogenetic ◽  
Mosaic Karyotype

scholarly journals Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Wei Guo ◽  
Yanguo Zhao ◽  
Shuwei Li ◽  
Jingqun Wang ◽  
Xiang Liu
Keyword(s):  
De Novo ◽  
Early Stage ◽  
Novel Mutation ◽  
Molecular Testing ◽  
Kabuki Syndrome ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Chinese Girl ◽  
Neonatal Stage ◽  
Congenital Condition

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 Dandy-Walker variant in the neonatal stage. A molecular test was conducted to diagnose KS at an early stage.

Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review

2019 ◽  
Vol 13 (2) ◽  
pp. 246-250
Author(s):  
Xueying Su ◽  
Yongxian Shao ◽  
Yunting Lin ◽  
Xiaoyuan Zhao ◽  
Wen Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Clinical Features ◽  
Molecular Characteristics ◽  
Chinese Girl

scholarly journals Kabuki Syndrome with Multiple Associated Surgical Anomalies (Cleft Palate, Anorectal Anomaly and Diaphragmatic Hernia): Case Report and Literature Review

2015 ◽  
Vol 6 (2) ◽  
pp. 303-308
Author(s):  
Shigeyuki Furuta ◽  
Hideaki Sato ◽  
Shiho Tsuji ◽  
Shutaro Manabe ◽  
Hiroshi Masaki ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Cleft Palate ◽  
Diaphragmatic Hernia ◽  
Kabuki Syndrome ◽  
Anorectal Anomaly
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