@article {1010,
	title = {De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.},
	journal = {Am J Med Genet A},
	year = {2021},
	month = {2021 May 18},
	abstract = {<p>TCF7L2 encodes transcription factor 7-like 2 (OMIM 602228), a key mediator of the evolutionary conserved canonical Wnt signaling pathway. Although several large-scale sequencing studies have implicated TCF7L2 in intellectual disability and autism, both the genetic mechanism and clinical phenotype have remained incompletely characterized. We present here a comprehensive genetic and phenotypic description of 11 individuals who have been identified to carry de novo variants in TCF7L2, both truncating and missense. Missense variation is clustered in or near a high mobility group box domain, involving this region in these variants{\textquoteright} pathogenicity. All affected individuals present with developmental delays in childhood, but most ultimately achieved normal intelligence or had only mild intellectual disability. Myopia was present in approximately half of the individuals, and some individuals also possessed dysmorphic craniofacial features, orthopedic abnormalities, or neuropsychiatric comorbidities including autism and attention-deficit/hyperactivity disorder (ADHD). We thus present an initial clinical and genotypic spectrum associated with variation in TCF7L2, which will be important in informing both medical management and future research.</p>},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.62254},
	author = {Dias, Caroline and Pfundt, Rolph and Kleefstra, Tjitske and Shuurs-Hoeijmakers, Janneke and Boon, Elles M J and van Hagen, Johanna M and Zwijnenburg, Petra and Weiss, Marjan M and Keren, Boris and Mignot, Cyril and Isapof, Arnaud and Weiss, Karin and Hershkovitz, Tova and Iascone, Maria and Maitz, Silvia and Feichtinger, Ren{\'e} G and Kotzot, Dieter and Mayr, Johannes A and Ben-Omran, Tawfeg and Mahmoud, Laila and Pais, Lynn S and Walsh, Christopher A and Shashi, Vandana and Sullivan, Jennifer A and Stong, Nicholas and Lecoquierre, Francois and Guerrot, Anne-Marie and Charollais, Aude and Rodan, Lance H}
}
@article {520,
	title = {Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.},
	journal = {Am J Hum Genet},
	volume = {103},
	year = {2018},
	month = {2018 09 06},
	pages = {431-439},
	abstract = {<p>ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by a group of enzymes referred to as poly(ADP-ribose) polymerases (PARPs). Because the accumulation of proteins with this modification results in cell death, its negative regulation restores cellular homeostasis: a process mediated by poly-ADP ribose glycohydrolases (PARGs) and ADP-ribosylhydrolase proteins (ARHs). Using linkage analysis and exome or genome sequencing, we identified recessive inactivating mutations in ADPRHL2 in six families. Affected individuals exhibited a pediatric-onset neurodegenerative disorder with progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections. Loss of the Drosophila paralog Parg showed lethality in response to oxidative challenge that was rescued by human ADPRHL2, suggesting functional conservation. Pharmacological inhibition of PARP also rescued the phenotype, suggesting the possibility of postnatal treatment for this genetic condition.</p>},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2018.07.010},
	author = {Ghosh, Shereen G and Becker, Kerstin and Huang, He and Dixon-Salazar, Tracy and Chai, Guoliang and Salpietro, Vincenzo and Al-Gazali, Lihadh and Waisfisz, Quinten and Wang, Haicui and Vaux, Keith K and Stanley, Valentina and Manole, Andreea and Akpulat, Ugur and Weiss, Marjan M and Efthymiou, Stephanie and Hanna, Michael G and Minetti, Carlo and Striano, Pasquale and Pisciotta, Livia and De Grandis, Elisa and Altm{\"u}ller, Janine and N{\"u}rnberg, Peter and Thiele, Holger and Yis, Uluc and Okur, Tuncay Derya and Polat, Ayse Ipek and Amiri, Nafise and Doosti, Mohammad and Karimani, Ehsan Ghayoor and Toosi, Mehran B and Haddad, Gabriel and Karakaya, Mert and Wirth, Brunhilde and van Hagen, Johanna M and Wolf, Nicole I and Maroofian, Reza and Houlden, Henry and Cirak, Sebahattin and Gleeson, Joseph G}
}
