A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th–50th centiles; length 50...

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Bibliographic Details
Main Authors: Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-11-01
Series:Frontiers in Pediatrics
Subjects:
Sotos
NSD1
overgrowth
dolichocephaly
learning disability
cryptorchidism
Online Access:http://journal.frontiersin.org/article/10.3389/fped.2017.00236/full

Internet

http://journal.frontiersin.org/article/10.3389/fped.2017.00236/full

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