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1p31.1 microdeletion including only NEGR1 gene in two patients. | LitMetric

1p31.1 microdeletion including only NEGR1 gene in two patients.

Eur J Med Genet

Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Published: June 2020

AI Article Synopsis

Article Abstract

Neuronal growth regulator 1 (NEGR1), a member of the immunoglobulin superfamily cell adhesion molecule subgroup IgLON, has been involved in neuronal growth and connectivity. Genetic variants, in or near the NEGR1 locus, have been associated with obesity and, more recently, with learning difficulties, intellectual disability, and psychiatric disorders. Here, we described the only second report of NEGR1 gene disruption in 1p31.1 microdeletion in two patients. Patient 1 is a 14-year-old female with neurological and psychiatric features present also in her family. Patient 2 is a 5-month-old infant showing global hypotonia as unique neurological features till now. This patient also carries 7p22.1 duplication, of paternal origin, that could be responsible for some malformations present in the child. We hypothesize a role of NEGR1 in producing the phenotype of our patients and compare them with other cases previously reported in the literature and DECIPHER database to better identify a possible genotype-phenotype correlation.

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Source
http://dx.doi.org/10.1016/j.ejmg.2020.103919DOI Listing

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