Clinical Education Center

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Authors:
Am J Hum Genet. 2021 Apr 21;S0002-9297(21)00138-5. doi: 10.1016/j.ajhg.2021.04.007.

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians

Authors: Anderson KE, Lobo R, Salazar D, Schloetter M, Spitzer G, White AL, Young RM, Bonkovsky HL, Frank EL, Mora J, Tortorelli S.
Am J Med Sci. 2021 Apr 15;S0002-9629(21)00093-8. doi: 10.1016/j.amjms.2021.03.004. Online ahead of print.

Specialties: Neurology

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Authors: Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE.
Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013.

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Authors: Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F.
Am J Med Genet A. 2021 Mar 30. doi: 10.1002/ajmg.a.62124. Online ahead of print.

Specialties: Neurology

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Authors: Huang Y, Sharma R, Feigenbaum A, Lee C, Sahai I, Sanchez Russo R, Neira J, Brooks SS, Jackson KE, Wong D, Cederbaum S, Lacbawan FL, Rowland CM, Tanpaiboon P, Salazar D.
Mol Genet Metab Rep. 2021 Mar 3;27:100735. doi: 10.1016/j.ymgmr.2021.100735. eCollection 2021 Jun.

Specialties: Genetics, Neurology, Pediatrics, Women's Health/OB/GYN

A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype

Authors: Soliani L, Spagnoli C, Salerno GG, Mehine M, Rizzi S, Frattini D, Koskenvuo J, Fusco C.
J Neuroophthalmol. 2021 Mar 1;41(1):e85-e88. doi: 10.1097/WNO.0000000000000921.

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study

Authors: Maron JL, Kingsmore SF, Wigby K, Chowdhury S, Dimmock D, Poindexter B, Suhrie K, Vockley J, Diacovo T, Gelb BD, Stroustrup A, Powell CM, Trembath A, Gallen M, Mullen TE, Tanpaiboon P, Reed D, Kurfiss A, Davis JM.
JAMA Pediatr. 2021 Feb 15;e205906. doi: 10.1001/jamapediatrics.2020.5906. Online ahead of print.

Specialties: Genetics, Neurology

Prenatal Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes

Authors: Lawrence AK, Whitehead MT, Kruszka P, Sanapo L, Yano S, Tanpaiboon P, Muenke M, Fraser JL, du Plessis AJ.
Prenat Diagn. 2021 Feb 1. doi: 10.1002/pd.5909. Online ahead of print.

Specialties: Neurology, Women's Health/OB/GYN

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Authors: Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K.
HGenet Med. 2021 Jan 25. doi: 10.1038/s41436-020-01091-9. Online ahead of print.

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Authors: Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K.
Genet Med. 2021 Jan 25. doi: 10.1038/s41436-020-01091-9. Online ahead of print.

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.