Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma

Livia Garavelli, Viviana Cordeddu, Stefania Errico, Patrizia Bertolini, Maria Elisabeth Street, Simonetta Rosato, Marzia Pollazzon, Anita Wischmeijer, Ivan Ivanovski, Paola Daniele, Ermanno Bacchini, Alfonsa Anna Lombardi, Giancarlo Izzi, Giacomo Biasucci, Carmine Del Rossi, Domenico Corradi, Giovanni Cazzaniga, Carlo Dominici, Cesare Rossi, Alessandro De LucaSergio Bernasconi, Riccardo Riccardi, Eric Legius, Marco Tartaglia

Research output: Contribution to journalArticlepeer-review

Abstract

Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and functionally unique mutation in SHOC2 (c.4A>G, p.Ser2Gly). Here, we report on a child with molecularly confirmed NSLH who developed a neuroblastoma, first suspected at the age 3 months by abdominal ultrasound examination. Based on this finding, scanning of the SHOC2 coding sequence encompassing the c.4A>G change was performed on selected pediatric cohorts of malignancies documented to occur in RASopathies (i.e., neuroblastoma, brain tumors, rhabdomyosarcoma, acute lymphoblastic, and myeloid leukemia), but failed to identify a functionally relevant cancer-associated variant. While these results do not support a major role of somatic SHOC2 mutations in these pediatric cancers, this second instance of neuroblastoma in NSLAH suggests a possible predisposition to this malignancy in subjects heterozygous for the c.4A>G SHOC2 mutation.

Original languageEnglish
Pages (from-to)1902-1907
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number8
DOIs
Publication statusPublished - Aug 1 2015

Keywords

  • Acute leukemias
  • Brain tumors
  • Cancer predisposition
  • Mazzanti syndrome
  • Neuroblastoma
  • Noonan-like syndrome with loose anagen hair
  • RASopathies
  • Rhabdomyosarcoma
  • SHOC2

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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