Atypical Sotos syndrome caused by a novel splice site variant

Minatogawa, Mari; Tsuji, Taichi; Inaba, Masafumi; Kawakami, Noriaki; Mizuno, Seiji; Kosho, Tomoki

doi:10.1038/s41439-022-00219-4

Cited by 2 publications

(1 citation statement)

References 10 publications

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“…For instance, Proteus syndrome arises from somatic activating mutations in the AKT1 gene, while Sotos syndrome results from inactivating mutations or copy number losses of the NSD1 gene. Molecular testing has not only verified diagnoses but also expanded the clinical phenotypes to encompass atypical cases, often with distinct molecular mechanisms [8,9].…”

Section: Introductionmentioning

confidence: 99%

Overgrowth syndromes, diagnosis and management

Klein,

Nisbet,

Kalish

2023

Current Opinion in Pediatrics

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Purpose of review This review will focus on the current knowledge of the diagnosis and management of overgrowth syndromes with specific focus on mosaic conditions and treatment strategies. Recent findings With the implementation of massively parallel sequencing, the genetic etiology many classically described overgrowth syndromes has been identified. More recently, the role of mosaic genetic changes has been well described in numerous syndromes. Furthermore, the role of imprinting and methylation, especially of the 11p15 region, has been shown to be instrumental for growth. Perhaps most importantly, many overgrowth syndromes carry an increased risk of neoplasm formation especially in the first 10 years of life and possibly beyond. The systematic approach to the child with overgrowth will aide in timely diagnosis and efficient alignment them with appropriate screening strategies. In some cases, precision medical interventions are available to target the perturbed growth signaling pathways. Summary The systematic approach to the child with overgrowth aids in the standardization of the diagnostic pathway for these young patients, thereby expediting the diagnostic timeline, enabling rigorous monitoring, and delivering tailored therapeutic interventions.

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Section: Introductionmentioning

confidence: 99%