@article {714,
	title = {Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.},
	journal = {Hum Mutat},
	volume = {40},
	year = {2019},
	month = {2019 12},
	pages = {2270-2285},
	abstract = {<p>Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. We present genetic and detailed phenotypic information on 23 newly identified families and simplex cases that include 19 affected females from 18 families and 14 affected males from nine families. Of note, the 15 females with deleterious de novo ZC4H2 variants presented with phenotypes ranging from mild to severe, and their clinical features overlapped with those seen in affected males. By contrast, of the nine carrier females with inherited ZC4H2 missense variants that were deleterious in affected male relatives, four were symptomatic. We also compared clinical phenotypes with previously published cases of both sexes and provide an overview on 48 males and 57 females from 42 families. The spectrum of ZC4H2 defects comprises novel and recurrent mostly inherited missense variants in affected males, and de novo splicing, frameshift, nonsense, and partial ZC4H2 deletions in affected females. Pathogenicity of two newly identified missense variants was further supported by studies in zebrafish. We propose ZC4H2 as a good candidate for early genetic testing of males and females with a clinical suspicion of fetal hypo-/akinesia and/or (neurogenic) AMC.</p>},
	issn = {1098-1004},
	doi = {10.1002/humu.23841},
	author = {Frints, Suzanna G M and Hennig, Friederike and Colombo, Roberto and Jacquemont, Sebastien and Terhal, Paulien and Zimmerman, Holly H and Hunt, David and Mendelsohn, Bryce A and Korda{\ss}, Ulrike and Webster, Richard and Sinnema, Margje and Abdul-Rahman, Omar and Suckow, Vanessa and Fern{\'a}ndez-Ja{\'e}n, Alberto and van Roozendaal, Kees and Stevens, Servi J C and Macville, Merryn V E and Al-Nasiry, Salwan and van Gassen, Koen and Utzig, Norbert and Koudijs, Suzanne M and McGregor, Lesley and Maas, Saskia M and Baralle, Diana and Dixit, Abhijit and Wieacker, Peter and Lee, Marcus and Lee, Arthur S and Engle, Elizabeth C and Houge, Gunnar and Gradek, Gyri A and Douglas, Andrew G L and Longman, Cheryl and Joss, Shelagh and Velasco, Danita and Hennekam, Raoul C and Hirata, Hiromi and Kalscheuer, Vera M}
}
@article {185,
	title = {Absence of heterozygosity due to template switching during replicative rearrangements.},
	journal = {Am J Hum Genet},
	volume = {96},
	year = {2015},
	month = {2015 Apr 02},
	pages = {555-64},
	abstract = {<p>We investigated complex genomic rearrangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accompanied by extended regions of copy-number-neutral absence of heterozygosity (AOH) in subjects with multiple congenital abnormalities. Molecular analyses provided observational evidence that in humans, post-zygotically generated CGRs can lead to regional uniparental disomy (UPD) due to template switches between homologs versus sister chromatids by using microhomology to prime DNA replication-a prediction of the replicative repair model, MMBIR. Our findings suggest that replication-based mechanisms might underlie the formation of diverse types of genomic alterations (CGRs and AOH) implicated in constitutional disorders. </p>},
	keywords = {Base Sequence, DNA Copy Number Variations, DNA Repair, DNA Replication, Gene Rearrangement, Humans, In Situ Hybridization, Fluorescence, Loss of Heterozygosity, Models, Genetic, Molecular Sequence Data, Netherlands, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Uniparental Disomy},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2015.01.021},
	author = {Carvalho, Claudia M B and Pfundt, Rolph and King, Daniel A and Lindsay, Sarah J and Zuccherato, Luciana W and Macville, Merryn V E and Liu, Pengfei and Johnson, Diana and Stankiewicz, Pawel and Brown, Chester W and Shaw, Chad A and Hurles, Matthew E and Ira, Grzegorz and Hastings, P J and Brunner, Han G and Lupski, James R}
}
