Sotos Syndrome Type 1 and Type 2: Case Series of 4 Pediatric Patients with Variants in NSD1 and NFIX Genes
Afërdita Tako Kumaraku
Service of Pediatrics, Mother Teresa University Hospital Center, Tirana, Albania and Department of Pediatrics, Faculty of Medicine, University of Medicine, Tirana, Albania.
Kristi Aleksi *
Faculty of Medicine, University of Medicine, Tirana, Albania.
Aida Bushati
Service of Pediatrics, Mother Teresa University Hospital Center, Tirana, Albania and Department of Pediatrics, Faculty of Medicine, University of Medicine, Tirana, Albania.
Armand Shehu
Service of Pediatrics, Mother Teresa University Hospital Center, Tirana, Albania and Department of Pediatrics, Faculty of Medicine, University of Medicine, Tirana, Albania.
Sonila Tomori
Service of Pediatrics, Mother Teresa University Hospital Center, Tirana, Albania.
Laurant Kollçaku
Service of Pediatrics, Mother Teresa University Hospital Center, Tirana, Albania.
Agim Gjikopulli
Service of Pediatrics, Mother Teresa University Hospital Center, Tirana, Albania.
Renald Meçani
Service of Pediatrics, Mother Teresa University Hospital Center, Tirana, Albania.
Paskal Cullufi
Service of Pediatrics, Mother Teresa University Hospital Center, Tirana, Albania.
*Author to whom correspondence should be addressed.
Abstract
Sotos syndrome is a rare genetic disorder with autosomal dominant inheritance, marked by overgrowth with macrocephaly, a distinctive facial appearance, and intellectual impairment. It occurs due to pathogenic variants encompassing the NSD1 gene. In addition, Sotos-like syndromes are also recognized, including Malan syndrome, known as Sotos syndrome type 2, which is caused by variants encompassing the NFIX gene.
Herein we present a series of 3 pediatric patients diagnosed with Sotos syndrome type 1 and 1 patient with Sotos syndrome type 2 and discuss their genotypes and phenotypes.
Keywords: Sotos syndrome, Malan syndrome, Sotos syndrome type 1, Sotos syndrome type 2, cerebral gigantism, overgrowth syndrome