Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient.
We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1).
Department of Genetics, Wrocław Medical University, Marcinkowskiego 1, 50-368 Wrocław, Poland. smigiel@gen.am.wroc.pl
R
R
Smigiel
A
A
Szafranska
M
M
Czyzewska
A
A
Rauch
Ch
Ch
Zweier
D
D
Patkowski
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D005260:Female; D020690:GTPase-Activating Proteins / Q000235:genetics; D017353:Gene Deletion; D005838:Genotype; D016695:Glycosyltransferases / Q000235:genetics; D006579:Heterozygote; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics* / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D006867:Hydrolases / Q000235:genetics; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*; D013577:Syndrome; D000074165:Zinc Finger E-box Binding Homeobox 2
C473316:ARHGAP15 protein, human; D020690:GTPase-Activating Proteins; D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2; C484366:GTDC1 protein, human; D016695:Glycosyltransferases; D006867:Hydrolases; C021480:kynureninase