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    American Journal of Medical Genetics Part A: Volume 188, Issue 4

    i, 1017-1341
    April 2022
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COVER IMAGE

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Cover Image, Volume 188A, Number 4, April 2022

  • Page: i
  • First Published: 14 March 2022
Cover Image, Volume 188A, Number 4, April 2022 Volume 188 Issue 4, 2022

The cover image is based on the Case Report A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family by Muhammad Sajid Hussain et al., https://doi.org/10.1002/ajmg.a.62610.

ISSUE INFORMATION

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Table of Contents, Volume 188A, Number 4, April 2022

  • Pages: 1017-1022
  • First Published: 14 March 2022
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Publication schedule for 2022

  • Page: 1023
  • First Published: 14 March 2022

THE AJMG SEQUENCE: DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY BY ROXANNE NELSON

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Predictive Model Detects Candidates for Genetic Testing

  • Pages: 1024-1025
  • First Published: 14 March 2022
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Implementation Strategies to Address Suboptimal Genetic Referral Practices

  • Pages: 1025-1026
  • First Published: 14 March 2022
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In This Issue

  • Page: 1027
  • First Published: 14 March 2022

ORIGINAL ARTICLES

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Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort

Dejan B. Budimirovic,  Dragana D. Protic,  Carol M. Delahunty,  Howard F. Andrews,  Tse-Hwei Choo,  Qing Xu,  Elizabeth Berry-Kravis,  Walter E. Kaufmann,  for the FORWARD Consortium , 
  • Pages: 1029-1039
  • First Published: 10 December 2021
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An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective

Andrea Curtin,  Arlene Mannion,  Robert J. Shprintzen,  Sally Whelan,  Rory Coyne,  Geraldine Leader, 
  • Pages: 1040-1047
  • First Published: 15 December 2021
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Improving survival in patients with trisomy 18

Shoko Tamaki,  Sota Iwatani,  Ayako Izumi,  Kentaro Hirayama,  Dai Kataoka,  Shohei Ohyama,  Toshihiko Ikuta,  Emiko Takeoka,  Sachiko Matsui,  Hitomi Mimura,  Shogo Minamikawa,  Yasuo Nakagishi,  Seiji Yoshimoto,  Hideto Nakao, 
  • Pages: 1048-1055
  • First Published: 08 December 2021
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Use of the Vineland-3, a measure of adaptive functioning, in CLN3

An N. Dang Do,  Audrey E. Thurm,  Cristan A. Farmer,  Ariane G. Soldatos,  Colby E. Chlebowski,  Julie K. O'Reilly,  Forbes D. Porter, 
  • Pages: 1056-1064
  • First Published: 16 December 2021
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Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism

Megan L. Corder,  Siren Berland,  Jostein A. Førsvoll,  Indraneel Banerjee,  Phil Murray,  Eirik Bratland,  David Gokhale,  Gunnar Houge,  Sofia Douzgou, 
  • Pages: 1065-1074
  • First Published: 17 December 2021
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A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration

Syeda Ain ul Batool,  Ahmad Almatrafi,  Fatima Fadhli,  Majed Alluqmani,  Sadia,  Ghazanfar Ali,  Sulman Basit, 
  • Pages: 1075-1082
  • First Published: 17 December 2021
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Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant

Martin Schwarz,  Lukáš Ryba,  Anna Křepelová,  Veronika Moslerová,  Michaela Zelinová,  Marek Turnovec,  Júlia Martinková,  Lenka Kratochvílová,  Martin Drahanský,  Milan Macek Jr,  Markéta Havlovicová, 
  • Pages: 1083-1087
  • First Published: 14 December 2021
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Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

Meghan C. Halley,  Jennifer L. Young,  Liliana Fernandez,  Jennefer N. Kohler,  Undiagnosed Diseases Network ,  Jonathan A. Bernstein,  Matthew T. Wheeler,  Holly K. Tabor, 
  • Pages: 1088-1101
  • First Published: 03 January 2022
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Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening

Kara B. Pappas,  Marissa Younan,  Robert Conway, 
  • Pages: 1102-1108
  • First Published: 03 January 2022
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Healthcare utilization among youth with Ehlers–Danlos syndrome hypermobile type

Sara E. Williams,  Susan T. Tran,  Anne Lynch-Jordan,  Kenneth R. Goldschneider,  Tracy V. Ting,  Susmita Kashikar-Zuck,  Derek Neilson, 
  • Pages: 1109-1117
  • First Published: 06 January 2022
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Delayed diagnosis and racial bias in children with genetic conditions

Jacklyn Omorodion,  Leah Dowsett,  Robin D. Clark,  Jamie Fraser,  Aya Abu-El-Haija,  Alanna Strong,  Monica H. Wojcik,  Allison S. Bryant,  Nina B. Gold, 
  • Pages: 1118-1123
  • First Published: 17 January 2022
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Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene

Faith Pangilinan,  David Watkins,  David Bernard,  Yue Chen,  Ningzheng Dong,  Qingyu Wu,  Hatice Ozel-Abaan,  Manjit Kaur,  Michele Caggana,  Mark Morrissey,  Marilyn L. Browne,  James L. Mills,  Carol Van Ryzin,  Oleg Shchelochkov,  Jennifer Sloan,  Charles P. Venditti,  Kyriakie Sarafoglou,  David S. Rosenblatt,  Denise M. Kay,  Lawrence C. Brody, 
  • Pages: 1124-1141
  • First Published: 02 February 2022
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Efficacy of virtual and asynchronous teaching of computer-assisted diagnosis of genetic diseases seen in clinics

Mary Grace Hash,  Philip D. Walker,  Heather E. Laferriere,  Leeanna Melton,  Lauren S. Heller,  John A. Phillips III, 
  • Pages: 1142-1148
  • First Published: 30 December 2021
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Congenital heart defects in molecularly confirmed KBG syndrome patients

Maria Cristina Digilio,  Giulio Calcagni,  Maria Gnazzo,  Paolo Versacci,  Maria Lisa Dentici,  Rossella Capolino,  Lorenzo Sinibaldi,  Anwar Baban,  Carolina Putotto,  Paolo Alfieri,  Marta Unolt,  Francesca R. Lepri,  Viola Alesi,  Silvia Genovese,  Antonio Novelli,  Bruno Marino,  Bruno Dallapiccola, 
  • Pages: 1149-1159
  • First Published: 31 December 2021
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Family perspectives on gaps in health care for people with Down syndrome

Emily King,  Mason Remington,  Heidi Berger, 
  • Pages: 1160-1169
  • First Published: 07 January 2022
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Growth charts for Mexican children with Down syndrome

Karla Adney Flores Arizmendi,  Silvestre García De La Puente,  Mauricio González Navarro,  Lelia Bonillo Suarez,  Ana Gabriela De León Becerra,  Alejandro Valderrama Hernández,  Rubi Santos Ríos,  Nelly Altamirano Bustamante, 
  • Pages: 1170-1183
  • First Published: 09 January 2022
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The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant

Yurie Ogura,  Tomoko Uehara,  Kota Ujibe,  Hiroshi Yoshihashi,  Mamiko Yamada,  Hisato Suzuki,  Toshiki Takenouchi,  Kenjiro Kosaki,  Hiromi Hirata, 
  • Pages: 1184-1192
  • First Published: 12 January 2022
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Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency

Eirene Alexandrou,  Andrew Dauber,  Leah Tyzinski,  Vivian Hwa,  Melissa Andrew,  Hee Kim,  Stacey Elangovan,  Paul Gubanich,  Jeffery A. Taylor-Haas,  Mark Paterno,  Philippe Backeljauw, 
  • Pages: 1193-1203
  • First Published: 09 January 2022
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Longitudinal analysis of symptoms in the Ehlers-Danlos syndromes

Jane R. Schubart,  Susan E. Mills,  Eric W. Schaefer,  Rebecca Bascom,  Clair A. Francomano, 
  • Pages: 1204-1213
  • First Published: 07 January 2022
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Whole-exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees

Zhihua Yang,  Jun Cao,  Yucen Song,  Suyi Li,  Zhihui Jiao,  Shumin Ren,  Xu Gao,  Suqin Zhang,  Jingjing Liu,  Yibing Chen, 
  • Pages: 1214-1225
  • First Published: 10 January 2022

CASE REPORTS

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Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings

Ece Çepni,  Nihan Bilge Satkın,  Lia Abbasi Moheb,  Maria Eugenia Rocha,  Hülya Kayserili, 
  • Pages: 1226-1232
  • First Published: 09 December 2021
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Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome

Helena Iznardo,  Cecilie Bredrup,  Sara Bernal,  Titas Gladkauskas,  José-Manuel Mascaró Jr,  Esther Roé,  Eulalia Baselga, 
  • Pages: 1233-1238
  • First Published: 11 December 2021
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Rare presentation of FDX2-related disorder and untargeted global metabolomics findings

Anjali Aggarwal,  Nishitha R. Pillai,  Charles J. Billington Jr.,  Lynn Schema,  Susan A. Berry, 
  • Pages: 1239-1244
  • First Published: 14 December 2021
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A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review

Rishika P. Sakaria,  Megan P. Fonville,  Silpa Peravali,  Parul G. Zaveri,  Henry J. Mroczkowski,  Elena Caron,  Mark F. Weems, 
  • Pages: 1245-1250
  • First Published: 13 December 2021
Open Access

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family

Maria Asif,  Ionut Dragos Mocanu,  Uzma Abdullah,  Wolfgang Höhne,  Janine Altmüller,  Ehtisham Ul Haq Makhdoom,  Holger Thiele,  Shahid Mahmood Baig,  Peter Nürnberg,  Luitgard Graul-Neumann,  Muhammad Sajid Hussain, 
  • Pages: 1251-1258
  • First Published: 16 December 2021
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Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1

David P. Vaughan,  Daniel J. Costello, 
  • Pages: 1259-1262
  • First Published: 20 December 2021
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Kohlschütter–Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants

Lelde Liepina,  Marija Luize Kalnina,  Ieva Micule,  Linda Gailite,  Dmitrijs Rots,  Julija Kalnina,  Jurgis Strautmanis,  Marta Celmina, 
  • Pages: 1263-1279
  • First Published: 23 December 2021
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Craniosynostosis is a feature of Costello syndrome

K. Nicole Weaver,  Marguerite Care,  Emily Wakefield,  Yuri A. Zarate,  Jesse Skoch,  Karen W. Gripp,  Carlos E. Prada, 
  • Pages: 1280-1286
  • First Published: 28 December 2021
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Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants

Vijaya Sree Venkatapuram,  Shagun Aggarwal,  Aditya Deepak Kulkarni,  Venugopal Satidevi Vineeth,  Ashwin Bhikaji Dalal,  Venkatraman Bhat,  Lavanya Kiran,  Siddaramappa Jagdish Patil, 
  • Pages: 1287-1292
  • First Published: 06 January 2022
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The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant

Yu Katata,  Saki Uneoka,  Naoya Saijyo,  Yu Aihara,  Takamitsu Miyazoe,  Shun Koyamaishi,  Yoshitsugu Oikawa,  Yuya Ito,  Yu Abe,  Yurika Numata-Uematsu,  Jun Takayama,  Atsuo Kikuchi,  Gen Tamiya,  Mitsugu Uematsu,  Shigeo Kure, 
  • Pages: 1293-1298
  • First Published: 31 December 2021
Open Access

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

Kristina Sibbin,  Patrick Yap,  Denis Nyaga,  Raoul Heller,  Stephen Evans,  Kate Strachan,  Salam Alburaiky,  Han M. (Alex) Nguyen,  Sylvie Hermann-Le Denmat,  Austen R. D. Ganley,  Justin M. O'Sullivan,  Frank H. Bloomfield, 
  • Pages: 1299-1306
  • First Published: 31 December 2021
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Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant

Lé Shon Peart,  Joanna Gonzalez,  Stephanie Bivona,  Kumarie Latchman,  Leonardo Torres,  Undiagnosed Diagnosis Network ,  Mustafa Tekin, 
  • Pages: 1307-1310
  • First Published: 07 January 2022

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Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome

Rita Quental,  Daniel Gonçalves,  Esmeralda Rodrigues,  Edite Serrano Gonçalves,  Jorge Oliveira,  João Parente Freixo,  Miguel Leão, 
  • Pages: 1311-1316
  • First Published: 08 January 2022

CASE REPORTS IN DIVERSE POPULATIONS

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Monosomy 1p36: Report of a cohort of 13 Asian Indian patients

Neerja Gupta,  Ravneet Kaur,  Shubha Phadke,  Pankaj Sharma,  Sheela Nampoothiri,  Deepti Saxena,  Madhulika Kabra, 
  • Pages: 1317-1322
  • First Published: 06 January 2022
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The diagnostic utility of exome-based carrier screening in families with a positive family history

Udhaya Hardik Kotecha,  Mehul Mistri,  Pranavchand Rayabarapu,  Parth Shah,  Nidhi Shah, 
  • Pages: 1323-1333
  • First Published: 08 January 2022

RESEARCH LETTER

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FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?

Ana Cristina De Sanctis Girardi,  Vanessa Naomi van Opstal Takahashi,  Estevão Vadasz,  Claudia Ismania Samogi Costa,  Elaine Cristina Zachi,  Angela M. Vianna-Morgante,  Maria Rita Passos-Bueno, 
  • Pages: 1334-1337
  • First Published: 03 January 2022

CORRIGENDA

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Corrigendum Parental mosaicism in de novo neurodevelopmental diseases. Am J Med Genet A. 2021;185A(7):2119–2125. Doi:10.1002/ajmg.a.62174

  • Page: 1338
  • First Published: 23 December 2021

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Corrigendum The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort. Am J Med Genet A. 2021;185(12):3793–3803. Doi:10.1002/ajmg.a.62452

  • Page: 1339
  • First Published: 28 December 2021

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Corrigendum Presacral Neuroendocrine Tumors Associated with the Currarino Syndrome. Am J Med Genet A. 2021;185(5):1582–1588. Doi:10.1002/ajmg.a.62145

  • Page: 1340
  • First Published: 28 December 2021

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Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363–1367. Doi:10.1002/ajmg.a.35341

  • Page: 1341
  • First Published: 22 December 2021