Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.
Am J Med Genet A
; 155A(11): 2826-31, 2011 Nov.
Article
em En
| MEDLINE
| ID: mdl-21964664
ABSTRACT
Neurexin 1 (NRXN1) is a cell adhesion protein, the normal function of which is critical for effective neurotransmission. It forms a trans-synaptic complex in the central nervous system with neuroligin. There has been one case in the literature of a patient with a heterozygous deletion in NRXN1 on one allele and a nonsense mutation on the other allele, reported to have a Pitt Hopkins-like phenotype. We report on two daughters of healthy, nonconsanguineous, Caucasian parents with biallelic NRXN1 deletions identified by array CGH. The children presented with severe early onset epilepsy, profound developmental delay, gastroesophageal reflux disease, constipation, and early onset puberty. Our report confirms that biallelic NRXN1 mutations result in a severe recessive mental retardation syndrome and broadens the range of phenotypes associated with this gene.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article