Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)

Abstract

We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15‐month‐old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:291–293]) as one of translocation breakpoints in the present patient. We suggest that the gene responsible for Sotos syndrome is located to a distal long‐arm region of chromosome 5. © 2001 Wiley‐Liss, Inc.

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

“…2 Recently, the analysis of chromosomal rearrangements involving chromosome 5q35 in two patients with Sotos syndrome has identified a putative locus for the disease. 3,4 Subsequently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene as the major cause of Japanese patients with Sotos syndrome and point mutations as the major cause of European patients with Sotos syndrome have been published. 5 -7 Miyake et al 8 found that microdeletions in Sotos syndrome mostly occurred in the paternally derived chromosome 5.…”

Three Novel Mutations in Greek Sotos Patients with Rare Clinical Manifestations

“…In 2002, Imaizumi et al [12] reported a patient with Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24). The NSD1 gene on chromosome region 5q35.3 consists of 23 exons, has an open reading frame of 8,088 bp, and is widely expressed [13].…”

GèneNSD1et macrosomies congénitales

“…Mais la mise en évidence d'un locus n'a pu se faire que grâce à une translocation réciproque équilibrée de novo survenue chez une petite japonaise de 15 mois [4]. Un des points de cassure, en 5q35, a permis de trouver une microdélétion avec perte du gène NSD1.…”