Brain malformations with urinary tract defects is an autosomal dominant microdeletions syndrome involving the NFIA gene. Clinical feature include craniofacial deformities, delayed psychomotor development and hydronephrosis due to urogenital malformations.
|Hereditary neurological disorders|
|Autosomal dominant cerebellar ataxia, deafness and narcolepsy|
|Autosomal recessive spastic paraplegia type 44|
|Brain malformations with urinary tract defects|
|Brain small vessel disease with hemorrhage|
|Congenital insensitivity to pain with anhidrosis|
|Hereditary benign chorea|
|Hereditary brain tumors|
|Hereditary distal motor neuron neuropathy type 5A|
|Hereditary muscle diseases|
|Hereditary sensory and autonomic neuropathy type 2A|
|Hereditary sensory neuropathy type 1E|
|Hypokalemic periodic paralysis 1|
|Hypomyelinating Leukodystrophy 2|
|Idiopathic basal ganglia calcification 1|
|Intellectual disability-severe speech delay-mild dysmorphism syndrome|
|Nemaline myopathy 5|
|Severe neonatal-onset encephalopathy with microcephaly|
|Spastic paraplegia 17 with amyotrophy of hands and feet|
|Susceptibility to glioma|
|Tuberous sclerosis complex|
|X-linked syndromic mental retardation 13|
Campbell CG et al. (2002) Interstitial microdeletion of chromosome 1p in two siblings.
Shanske AL et al. (2004) Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.
Lu W et al. (2007) NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
Rao A et al. (2014) An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
Nyboe D et al. (2015) Familial craniosynostosis associated with a microdeletion involving the NFIA gene.
Negishi Y et al. (2015) Truncating mutation in NFIA causes brain malformation and urinary tract defects.
Zinner SH et al. (2003) Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome.
Koehler U et al. (2010) A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.
Labonne JD et al. (2016) Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.
Bayat A et al. (2017) Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.
OMIM.ORG articleOmim 613735
Orphanet articleOrphanet ID 401986