Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brain malformations with urinary tract defects

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
Alzheimer disease
Arts syndrome
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
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
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
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
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 article

Omim 613735 [^]

Orphanet article

Orphanet ID 401986 [^]
Update: May 9, 2019