Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients
Copyright policy )Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients
We report on a 7-year-old girl with severe mental retardation (MR), autism, micro-brachycephaly, generalized muscle hypotonia with distal hypotrophy of lower limbs, scoliosis and facial dysmorphisms. Array-CGH analysis identified a 1.1 Mb deletion of chromosome Xq22.1. Further analysis demonstrated that the deletion was inherited from her mother who showed mild MR, short stature, brachycephaly, epilepsy and a Borderline Personality Disorder. Microsatellite segregation analysis revealed that the rearrangement arose de novo in the mother on the paternal X chromosome. The deleted Xq22.1 region contains part of the NXF gene cluster which is involved in mRNA nuclear export and metabolism. Among them, the NXF5 gene has already been linked to mental retardation whereas NXF2 protein has been recently found to be partner of FMRP in regulating Nxf1 mRNA stability in neuronal cells. The dosage imbalance of NXF5 and NXF2 genes may explain the severe phenotype in our patient.
- University of Catania Italy
Chromosomes, Human, X, Comparative Genomic Hybridization, Nucleocytoplasmic Transport Proteins, Mental Disorders, RNA-Binding Proteins, Phenotype, Intellectual Disability, Multigene Family, Humans, Muscle Hypotonia, Female, RNA, Messenger, Chromosome Deletion, Child, Microsatellite Repeats
Chromosomes, Human, X, Comparative Genomic Hybridization, Nucleocytoplasmic Transport Proteins, Mental Disorders, RNA-Binding Proteins, Phenotype, Intellectual Disability, Multigene Family, Humans, Muscle Hypotonia, Female, RNA, Messenger, Chromosome Deletion, Child, Microsatellite Repeats
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).87 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 1%
Citations provided by BIP!Popularity provided by BIP!