Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma
2018
Sotos syndromeis one of the most common overgrowth diseases and it predisposes patients to cancer, generally in childhood. The prevalence of this genetic disorder is 1:10,000–1:50,000, and it is characterized by wide
allelic heterogeneity, with more than 100 different known mutations in the nuclear receptor-binding
SET domaincontaining protein 1 (NSD1) gene. Most of these alterations are deletions and common micro-deletions with
haploinsufficiency. Singular variants are
missense mutations. The present study reports a case of a 4-year-old boy with specific clinical features of
Sotos syndromeand a particular complex skin
hamartomaon the right femoral side, in addition to other minor findings, such as a “
cafe-au-lait”
spoton the right hemithorax and
syndactylyof the second and third right toes. NSD1 gene analysis identified a de novo
missense mutation, “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]”, that was not previously described in the literature. This mutation was localized to the functional domain of the gene and was likely the cause of
Sotos syndromein our patient. We also compared aspects of our patient’s condition with the clinical features of
tuberous sclerosis(TSC), which is an autosomal neurocutaneous syndrome caused by mutations in the
TSC1/
TSC2genes. These genes control cell growth and cell survival. This disorder is characterized by
hamartomasin multiple organ systems, several coetaneous abnormalities, epilepsy, and increased risk of several types of tumors.
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