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Multiple congenital anomalies‐intellectual disability (MCA‐ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion
Author(s) -
Lehalle Daphné,
Sanlaville Damien,
Guimier Anne,
Plouvier Emmanuel,
Leblanc Thierry,
Galmiche Louise,
Radford Isabelle,
Romana Serge,
Colleaux Laurence,
de Pontual Loïc,
Lyonnet Stanislas,
Amiel Jeanne
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36452
Subject(s) - haploinsufficiency , neuroblastoma , loss of heterozygosity , germline , germline mutation , mutation , costello syndrome , hypoplasia , medicine , genetics , biology , cancer research , gene , allele , phenotype , kras , cell culture
Neuroblastoma is the most frequent extra cranial solid tumor in infants and children. Genetic predisposition to neuroblastoma has been suspected previously due to familial cases of sporadic NB and predisposition to NB in several syndromes. Here, we report on a de novo 14q23.1–q23.3 microdeletion in a male presenting with a neuroblastoma diagnosed at 9 months, and spherocytosis, congenital heart defect, cryptorchidism, hypoplasia of corpus callosum, epilepsy, and developmental delay. Myc‐associated‐factor X ( MAX ) haploinsufficiency could be regarded as the predisposing factor to NB. Indeed 14q deletion is a recurrent somatic rearrangement in NB and MAX somatic and germline loss of function mutation have recently been described in pheochromocytoma and paraganglioma. However, MAX was expressed in the tumor of the patient we report on and, accordingly, loss of heterozygosity, mutation, or promoter methylation were excluded. In addition, we discuss the potential involvement in the clinical spectrum presented by the patient of five of the deleted genes, namely DAAM1 , PLEKHG3 , SPTB , AKAP5 , and ARID4A . © 2014 Wiley Periodicals, Inc.