Title:The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies
Volume: 21
Issue: 11
Author(s): Molood Safarirad, Ali Abbaszadeh Ganji, Saba Fekrvand, Reza Yazdani, Ahmad Vosughi Motlagh*, Hassan Abolhassani and Asghar Aghamohammadi
Affiliation:
- Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd,Iran
Keywords:
Primary immunodeficiency, Kabuki syndrome, KMT2D, mental retardation, facial dysmorphic features, case report.
Abstract: Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized
by intellectual disability, developmental delay, short stature, facial dysmorphic features including
ectropion of the lateral third of the lower eyelids, long palpebral fissures, and prominent finger
pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of
Kabuki syndrome. Here, we report the first Iranian case with Kabuki syndrome with an IQ of 79,
two episodes of viral pneumonia and distinctive facial features, prominent ears, and persistent fetal
fingertip pads. These characteristics raised our suspicion of performing whole-exome sequencing
(WES), which revealed 2 heterozygous pathogenic missense variants in the KMT2D gene:
c.C10024T in exon 34, leading to p.R3342C and c.G15005A in exon 48, leading to p.R5002Q.
Hence, the definitive diagnosis of Kabuki syndrome was made based on molecular findings along
with the intellectual disability and characteristic facial features.
