A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of <b><i>SMARCA2</i></b> in Three Patients with Nicolaides-Baraitser Syndrome

“…Twenty-five of 26 published patients with NicolaidesBaraitser syndrome [Nicolaides and Baraitser, 1993;Krajewska-Walasek et al, 1996;Morin et al, 2003;Witters and Fryns, 2003;Castori et al, 2008;Sousa et al, 2009;Gana et al, 2011] as well as our patients 1 and 2 showed moderate to severe mental retardation; therefore, the finding of borderline IQ in patient 3 seems rather exceptional. Of note, behavioral anomalies with short attention span and/or autistic features were observed in all of our patients and specifically reported by Gana et al [2011] in 2 patients, thus possibly representing a so far underrecognized aspect of Nicolaides-Baraitser syndrome.…”

“…After the initial description in 1993 [Nicolaides and Baraitser, 1993], this disorder was only very rarely reported until Sousa et al [2009] published 18 new cases and delineated the clinical features of this syndrome in great detail. NicolaidesBaraitser syndrome is characterized by severe intellectual disability with absent or limited speech, short attention span, autism spectrum disorder, variable seizures, short stature, sparse hair, prominent finger joints, and distinct facial features, but it is very likely under-diagnosed since so far only 26 patients have been reported [Nicolaides and Baraitser, 1993;Krajewska-Walasek et al, 1996;Morin et al, 2003;Witters and Fryns, 2003;Castori et al, 2008;Sousa et al, 2009;Gana et al, 2011]. Until now, inheritance and underlying genetic cause were unknown, but because most patients were sporadic, autosomal dominant new mutations were suspected.…”

“…In this context, ct. = Centiles; ID = intellectual disability; IP = interphalangeal; n.d. = not determined; OFC = occipito-frontal head circumference. a Twenty-three cases described by Sousa et al [2009] and summarizing all published patients [Nicolaides and Baraitser, 1993;Krajewska-Walasek et al, 1996;Morin et al, 2003;Witters and Fryns, 2003;Sousa et al, 2009] plus 3 further published cases [Castori et al, 2008;Gana et al, 2011]. it is interesting that sparse hair as a hallmark of Nicolaides-Baraitser syndrome is not mentioned in any of the DECIPHER patients with 9 large deletions and 4 large duplications including the SMARCA2 gene for which clinical descriptions are provided. This further supports a specific role of the C-terminal helicase domain for the distinct phenotype of Nicolaides-Baraitser syndrome.…”

Coffin–Siris syndrome is a SWI/SNF complex disorder

“…, Table ). NCBRS, a similar condition to CSS , is excluded in this study. Genomic DNA of peripheral blood leukocytes was extracted by conventional methods.…”

A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation

“…Nicolaides-Baraitser syndrome (NCBRS) is a rare and well-recognized entity that was first described in 1993 by pediatric neurologist Paola Nicolaides and medical geneticist Michael Baraitser in a patient with distinctive features characterized by intellectual disability, peculiar facial features, multiple congenital anomalies, and seizures [ 1 ]. After that, further cases were reported [ 2 – 5 ]. In 2009, a follow-up of those patients and the characterization of eighteen more allowed the scientific community to delineate the entire phenotype of NCBRS and made it possible to recognize it as a distinctive entity with some variability in the signs and symptoms [ 6 ].…”