@article {913,
	title = {Missense variant contribution to USP9X-female syndrome.},
	journal = {NPJ Genom Med},
	volume = {5},
	year = {2020},
	month = {2020 Dec 09},
	pages = {53},
	abstract = {<p>USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense variants, in females de novo heterozygous complete loss-of-function mutations predominate, and give rise to the clinically recognisable USP9X-female syndrome. Here we provide evidence of the contribution of USP9X missense and small in-frame deletion variants in USP9X-female syndrome also. We scrutinise the pathogenicity of eleven such variants, ten of which were novel. Combined application of variant prediction algorithms, protein structure modelling, and assessment under clinically relevant guidelines universally support their pathogenicity. The core phenotype of this cohort overlapped with previous descriptions of USP9X-female syndrome, but exposed heightened variability. Aggregate phenotypic information of 35 currently known females with predicted pathogenic variation in USP9X reaffirms the clinically recognisable USP9X-female syndrome, and highlights major differences when compared to USP9X-male associated neurodevelopmental disorders.</p>},
	issn = {2056-7944},
	doi = {10.1038/s41525-020-00162-9},
	author = {Jolly, Lachlan A and Parnell, Euan and Gardner, Alison E and Corbett, Mark A and P{\'e}rez-Jurado, Luis A and Shaw, Marie and Lesca, Gaetan and Keegan, Catherine and Schneider, Michael C and Griffin, Emily and Maier, Felicitas and Kiss, Courtney and Guerin, Andrea and Crosby, Kathleen and Rosenbaum, Kenneth and Tanpaiboon, Pranoot and Whalen, Sandra and Keren, Boris and McCarrier, Julie and Basel, Donald and Sadedin, Simon and White, Susan M and Delatycki, Martin B and Kleefstra, Tjitske and K{\"u}ry, S{\'e}bastien and Brusco, Alfredo and Sukarova-Angelovska, Elena and Trajkova, Slavica and Yoon, Sehoun and Wood, Stephen A and Piper, Michael and Penzes, Peter and Gecz, Jozef}
}
@article {228,
	title = {Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.},
	journal = {Am J Hum Genet},
	volume = {95},
	year = {2014},
	month = {2014 Aug 07},
	pages = {227-34},
	abstract = {<p>Cerebellar dysplasia with cysts (CDC) is an imaging finding typically seen in combination with cobblestone cortex and congenital muscular dystrophy in individuals with dystroglycanopathies. More recently, CDC was reported in seven children without neuromuscular involvement (Poretti-Boltshauser syndrome). Using a combination of homozygosity mapping and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seven affected individuals (from five families) independent from those included in the phenotypic description of Poretti-Boltshauser syndrome. Most of these individuals also have high myopia, and some have retinal dystrophy and patchy increased T2-weighted fluid-attenuated inversion recovery (T2/FLAIR) signal in cortical white matter. In one additional family, we identified two siblings who have truncating LAMA1 mutations in combination with retinal dystrophy and mild cerebellar dysplasia without cysts, indicating that cysts are not an obligate feature associated with loss of LAMA1 function. This work expands the phenotypic spectrum associated with the lamininopathy disorders and highlights the tissue-specific roles played by different laminin-encoding genes. </p>},
	keywords = {Adult, Alleles, Base Sequence, Cerebellar Cortex, Cerebellar Diseases, Child, Child, Preschool, Cysts, Exome, Female, Humans, Laminin, Male, Muscular Dystrophies, Retinal Dystrophies, Sequence Analysis, DNA, Young Adult},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2014.07.007},
	author = {Aldinger, Kimberly A and Mosca, Stephen J and T{\'e}treault, Martine and Dempsey, Jennifer C and Ishak, Gisele E and Hartley, Taila and Phelps, Ian G and Lamont, Ryan E and O{\textquoteright}Day, Diana R and Basel, Donald and Gripp, Karen W and Baker, Laura and Stephan, Mark J and Bernier, Francois P and Boycott, Kym M and Majewski, Jacek and Parboosingh, Jillian S and Innes, A Micheil and Doherty, Dan}
}
