Open AccessA new variant of MYCN gene as a cause of Feingold syndrome
Author(s) -
Zeka Naim,
Bejiqi Ramush,
Gerguri Abdurrahim,
Zogaj Leonore,
Jashari Haki
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5886
Subject(s) - penetrance , microcephaly , medicine , intellectual disability , short stature , expressivity , genetic disorder , genetics , gene , pediatrics , phenotype , pathology , disease , biology , psychiatry
Feingold syndrome 1 (FS1) is a rare disorder that is inherited in autosomal dominant manner with full penetrance but with variable expressivity. The most common phenotypical features described are finger and toe anomalies, microcephaly, short stature, and intestinal atresia. Dysmorphic features, intellectual disability and other organ anomalies are less frequently described. Here, we present a 7‐year‐old boy with severe intellectual disability who is diagnosed with FS1 syndrome caused by a new heterozygous variant of MYCN gene