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1P31.1 MICRODELECTION INCLUDING ONLY NEGR1 GENE
- Sandra Catarina L. Ferraz (Portugal)
Abstract
Background and Aims
The NEGR1 gene is associated with neuronal growth, proliferation, and differentiation. Interstitial deletions of chromosome 1p31 including only NEGR1 gene are extremely rare and clinical findings included intellectual disability, hypertonia, failure to thrive, short stature, obesity, microcephaly, broad nasal tip, tendency for an open mouth, micrognathia, high-arched palate, short neck, fifth finger clinodactyly, and tapering fingers.
Methods
We report a case of a 5-year old male with global development delay and developmental verbal dyspraxia. Past medical and birth history were uneventful. He had a familiar history of speech disorder. He presented with microdontia and hypodontia, tendency for an open mouth, a high-arched palate, and a broad nasal bridge.
Results
Etiologic evaluation was carried out and on array-CGH it was found a 382 kb deletion of chromosome 1p31.1, which included two of the seven exons of the NEGR1 gene.
Conclusions
This finding allows a better clinical follow-up of the patient, providing adequate genetic counselling to this family. This mutation is yet of uncertain significance, but some associations have been reported that are consistent with this case's clinical manifestations. Array-CGH has become a valuable tool for the diagnosis of small genomic rearrangements containing few genes and, in some cases, only one gene.