An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation.
Patients with microdeletions in the 19p13.2 chromosomal region show developmental delays, overgrowth, and distinctive features with big head appearances. These manifestations are now recognized as Sotos syndrome-like features (Sotos syndrome 2) or Malan syndrome. We identified three female patients with 19p13.2 deletions involving NFIX, a gene responsible for Malan syndrome. We compared the genotypic and phenotypic data of these patients with those of the patients previously reported. The most of the clinical features were found to overlap; however, Chiari malformation type I was observed in two of the three patients evaluated in this study. Because Chiari malformation type I has never been reported in the patients with NSD1-related Sotos syndrome, this finding indicates the possible role of 19p13.2 deletion in patients with mimicking features of Sotos syndrome but have negative NSD1 testing results.
Precursory Research for Embryonic Science and Technology (PRESTO), Japan Science and Technology Agency (JST), Kawaguchi, Japan; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
Keiko
K
Shimojima
Nobuhiko
N
Okamoto
Akiko
A
Tamasaki
Noriko
N
Sangu
Shino
S
Shimada
Toshiyuki
T
Yamamoto
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001139:Arnold-Chiari Malformation / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D058495:Sotos Syndrome / Q000175:diagnosis
19p13.2 microdeletion; Chiari malformation type I; Malan syndrome; NFIX; Sotos syndrome-like features (Sotos syndrome 2); developmental delay