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    American Journal of Medical Genetics Part A: Volume 188, Issue 9

    i, 2515-2849
    September 2022
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COVER IMAGE

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Cover Image, Volume 188A, Number 9, September 2022

  • Page: i
  • First Published: 13 August 2022
Cover Image, Volume 188A, Number 9, September 2022

The cover image is based on the Rapid Publication NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy by Paul Mark et al., https://doi.org/10.1002/ajmg.a.62764.

ISSUE INFORMATION

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Table of Contents, Volume 188A, Number 9, September 2022

  • Pages: 2515-2520
  • First Published: 13 August 2022
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Publication schedule for 2022

  • Page: 2521
  • First Published: 13 August 2022

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

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Advances in Genomic Technologies Change High-Risk Testing for Breast And Colorectal Cancer

  • Pages: 2522-2523
  • First Published: 13 August 2022
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Long-Read Sequencing Allows Increased Detection of De Novo Mutations

  • Pages: 2523-2524
  • First Published: 13 August 2022
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In This Issue

  • Page: 2525
  • First Published: 13 August 2022

REVIEW ARTICLES

Open Access

Hepatoblastoma in molecularly defined, congenital diseases

Gunther Nussbaumer,  Martin Benesch, 
  • Pages: 2527-2535
  • First Published: 28 April 2022
Open Access

The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature

Neelam Awan,  Effie Pearson,  Lauren Shelley,  Courtney Greenhill,  Joanne Tarver,  Jane Waite, 
  • Pages: 2536-2554
  • First Published: 21 June 2022

ORIGINAL ARTICLES

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Carrier screening for Krabbe disease in an isolated inbred community

Shlomit Ezer,  Shachar Zuckerman,  Reeval Segel,  Joël Zlotogora, 
  • Pages: 2555-2559
  • First Published: 01 July 2022
Open Access

Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications

Ryojun Takeda,  Tomomi Yamaguchi,  Shujiro Hayashi,  Shinichirou Sano,  Hiroshi Kawame,  Sachiko Kanki,  Takeshi Taketani,  Hidekane Yoshimura,  Yukio Nakamura,  Tomoki Kosho, 
  • Pages: 2560-2575
  • First Published: 13 July 2022
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Detecting pathogenic deep intronic variants in Gitelman syndrome

Rini Rossanti,  Tomoko Horinouchi,  Nana Sakakibara,  Tomohiko Yamamura,  China Nagano,  Shinya Ishiko,  Yuya Aoto,  Atsushi Kondo,  Sadayuki Nagai,  Hiroyuki Awano,  Hiroaki Nagase,  Masafumi Matsuo,  Kazumoto Iijima,  Kandai Nozu, 
  • Pages: 2576-2583
  • First Published: 03 July 2022
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Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis

Wesley Y. Ho,  Ellyn Farrelly,  David A. Stevenson, 
  • Pages: 2584-2589
  • First Published: 02 July 2022
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Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis

Julian Emanuel Alecu,  Yuhsuke Ohmi,  Robiul H. Bhuiyan,  Kei-ichiro Inamori,  Takahiro Nitta,  Afshin Saffari,  Hellen Jumo,  Marvin Ziegler,  Claudio Melo de Gusmao,  Nutan Sharma,  Shiho Ohno,  Noriyoshi Manabe,  Yoshiki Yamaguchi,  Mariko Kambe,  Keiko Furukawa,  Mustafa Sahin,  Jin-ichi Inokuchi,  Koichi Furakawa,  Darius Ebrahimi-Fakhari, 
  • Pages: 2590-2598
  • First Published: 01 July 2022
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High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight

Bruna Lucheze Freire,  Thais Kataoka Homma,  Antônio Marcondes Lerario,  Go Hun Seo,  Heonjong Han,  Mariana Ferreira de Assis Funari,  Nathalia Lisboa Gomes,  Carla Rosemberg,  Ana Cristina Victorino Krepischi,  Gabriela de Andrade Vasques,  Alexsandra Christianne Malaquias,  Alexander Augusto de Lima Jorge, 
  • Pages: 2599-2604
  • First Published: 06 July 2022
Open Access

Pain and fatigue in adults with Loeys–Dietz syndrome and vascular Ehlers–Danlos syndrome, a questionnaire-based study

Johansen Heidi,  Velvin Gry,  Ingeborg B. Lidal, 
  • Pages: 2605-2616
  • First Published: 10 June 2022
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Pathogenic variants in CASK: Expanding the genotype–phenotype correlations

Holly Dubbs,  Xilma Ortiz-Gonzalez,  Eric D. Marsh, 
  • Pages: 2617-2626
  • First Published: 07 June 2022
Open Access

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome

Felix Marbach,  Beata S. Lipska-Ziętkiewicz,  Agata Knurowska,  Vincent Michaud,  Henri Margot,  James Lespinasse,  Frédéric Tran Mau Them,  Christine Coubes,  Joohyun Park,  Sarah Grosch,  Cristiana Roggia,  Ute Grasshoff,  Louisa Kalsner,  Anne-Sophie Denommé-Pichon,  Alexandra Afenjar,  Bénédicte Héron,  Boris Keren,  Pilar Caro,  Christian P. Schaaf, 
  • Pages: 2627-2636
  • First Published: 05 July 2022
Open Access

Single-center real-life experience with testosterone treatment in adult men with Prader–Willi syndrome

Brendan J. Nolan,  Joseph Proietto,  Priya Sumithran, 
  • Pages: 2637-2641
  • First Published: 09 May 2022
Open Access

Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance

Britt Johnson,  Karen Ouyang,  Lauren Frank,  Rebecca Truty,  Susan Rojahn,  Ana Morales,  Swaroop Aradhya,  Keith Nykamp, 
  • Pages: 2642-2651
  • First Published: 16 May 2022
Open Access

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

Luciana Musante,  Flavio Faletra,  Kolja Meier,  Hoda Tomoum,  Paria Najarzadeh Torbati,  Edward Blair,  Sally North,  Jutta Gärtner,  Susann Diegmann,  Mehran Beiraghi Toosi,  Farah Ashrafzadeh,  Ehsan Ghayoor Karimiani,  David Murphy,  Flora Maria Murru,  Caterina Zanus,  Andrea Magnolato,  Martina La Bianca,  Agnese Feresin,  Giorgia Girotto,  Paolo Gasparini,  Paola Costa,  Marco Carrozzi, 
  • Pages: 2652-2665
  • First Published: 07 June 2022

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Tuberous sclerosis complex-associated nonfunctional pancreatic neuroendocrine tumors: Management and surgical outcomes

Leah M. Evans,  Kennedy R. Geenen,  Aileen O'Shea,  Sandeep S. Hedgire,  Cristina R. Ferrone,  Elizabeth A. Thiele, 
  • Pages: 2666-2671
  • First Published: 25 May 2022
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Understanding barriers to diagnosis in a rare, genetic disease: Delays and errors in diagnosing schwannomatosis

Vanessa L. Merker,  Bronwyn Slobogean,  Justin T. Jordan,  Shannon Langmead,  Mark Meterko,  Martin P. Charns,  A. Rani Elwy,  Jaishri O. Blakeley,  Scott R. Plotkin, 
  • Pages: 2672-2683
  • First Published: 09 June 2022
Open Access

Undiagnosed disease program in South Africa: Results from first 100 exomes

Shahida Moosa,  Kimberly Christine Coetzer,  Eugene Lee,  Go Hun Seo, 
  • Pages: 2684-2692
  • First Published: 26 May 2022
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Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family

Atta Ullah Khan,  Ibrar Khan,  Muhammad Ismail Khan,  Muhammad Latif,  Muhammad Imran Siddiqui,  Shafi Ullah Khan,  Thet Thet Htar,  Ghazala Wahid,  Ikram Ullah,  Fehmida Bibi,  Asifullah Khan,  Muhammad Imran Naseer,  Go Hun Seo,  Musharraf Jelani, 
  • Pages: 2693-2700
  • First Published: 15 June 2022

CASE REPORTS

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A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy

Diğdem Bezen,  Orkide Kutlu,  Stephane Mouilleron,  Karine Rizzoti,  Mehul Dattani,  Tulay Guran,  Gözde Yeşil, 
  • Pages: 2701-2706
  • First Published: 06 July 2022
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Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I

Kristen Murphey,  Paul E. George,  Bojana Pencheva,  Christopher C. Porter,  Stephanie Burns Wechsler,  Michael J. Gambello,  Hong Li, 
  • Pages: 2707-2711
  • First Published: 04 July 2022
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Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias

Akgün Ölmez,  Gökhan Ozan Çetin,  Kadri Karaer, 
  • Pages: 2712-2717
  • First Published: 27 June 2022
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Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia

Yoel Gofin,  Xiaonan Zhao,  Amanda Gerard,  Fernando Scaglia,  Michael F. Wangler,  Samantha A. Schrier Vergano,  Daryl A. Scott, 
  • Pages: 2718-2723
  • First Published: 07 July 2022
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Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype

Carolina I. Galarreta,  Colleen Kennedy,  David R. Blair,  Anne Slavotinek, 
  • Pages: 2724-2731
  • First Published: 29 June 2022
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Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature

Xiaoao Dong,  Nicholas C. Y. Png,  Marielle V. Fortier,  Jiin Ying Lim,  Kenneth P. L. Wong,  Jonathan T. L. Choo,  Ene Choo Tan,  Saumya Shekhar Jamuar, 
  • Pages: 2732-2737
  • First Published: 07 July 2022
Open Access

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry

Charles J. Billington Jr,  Kimberly A. Chapman,  Eyby Leon,  Beatrix W. Meltzer,  Seth I. Berger,  Matthew Olson,  Robert A. Figler,  Steve A. Hoang,  Cui Wanxing,  Brian R. Wamhoff,  M. Sol Collado,  Kristina Cusmano-Ozog, 
  • Pages: 2738-2749
  • First Published: 07 July 2022
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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

Lauren O'Grady,  Samantha A. Schrier Vergano,  Trevor L. Hoffman,  Dean Sarco,  Sara Cherny,  Emily Bryant,  Laura Schultz-Rogers,  Wendy K. Chung,  Stephanie Sacharow,  Ladonna L. Immken,  Susan Holder,  Rebecca R. Blackwell,  Catherine Buchanan,  Roman Yusupov,  François Lecoquierre,  Anne-Marie Guerrot,  Lance Rodan,  Bert B. A. de Vries,  Erik Jan Kamsteeg,  Fernando Santos Simarro,  Maria Palomares-Bralo,  Natasha Brown,  Lynn Pais,  Alejandro Ferrer,  Eric W. Klee,  Dusica Babovic-Vuksanovic,  Lindsay Rhodes,  Richard Person,  Amber Begtrup,  Jennifer Keller-Ramey,  Teresa Santiago-Sim,  Rhonda E. Schnur,  David A. Sweetser,  Nina B. Gold, 
  • Pages: 2750-2759
  • First Published: 11 May 2022
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Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency

Lisa Yuen,  Inderneel Sahai,  Lauren O'Grady,  Martin Selig,  Melissa Anne Walker,  Uzma Shah,  Joseph Misdraji, 
  • Pages: 2760-2765
  • First Published: 04 July 2022
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Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma

Emily W. Modlin,  Anne M. Slavotinek,  Thomas N. Darling,  Stanley Lipkowitz,  Frederic G. Barr,  Pamela N. Munster,  Leslie G. Biesecker,  Christopher A. Ours, 
  • Pages: 2766-2771
  • First Published: 20 April 2022
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MYH7 variants cause complex congenital heart disease

Alyssa Ritter,  Jacqueline Leonard,  Christopher Gray,  Kosuke Izumi,  Katharine Levinson,  Divya R. Nair,  Matthew O'Connor,  Joseph Rossano,  Venkat Shankar,  Jessica Chowns,  Amy Marzolf,  Anjali Owens,  Rebecca C. Ahrens-Nicklas, 
  • Pages: 2772-2776
  • First Published: 02 May 2022
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Nonsyndromic arteriopathy and aortopathy and vascular Ehlers–Danlos syndrome causing COL3A1 variants

Hiroki Yagi,  Norifumi Takeda,  Eisuke Amiya,  Nana Akiyama,  Hyangri Chang,  Hiroyuki Ishiura,  Jiro Sato,  Hiroshi Akazawa,  Hiroyuki Morita,  Issei Komuro, 
  • Pages: 2777-2782
  • First Published: 11 May 2022
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Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders

Aishin Lok,  Miguel A. Fernandez-Garcia,  Robert W. Taylor,  Courtney French,  Robert MacFarland,  Istvan Bodi,  Michael Champion,  Dragana Josifova,  Frances Lucy Raymond,  Arcangela Iuso,  Heinz Jungbluth,  Anna Milan,  Rahul R. Singh, 
  • Pages: 2783-2789
  • First Published: 26 May 2022
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PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group

Charlotte A. Sherlaw-Sturrock,  Tracey Willis,  Nigel Kiely,  Gunnar Houge,  Julie Vogt, 
  • Pages: 2790-2795
  • First Published: 14 June 2022
Open Access

Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant

Roberto Paparella,  Anna Maria Caroleo,  Emanuele Agolini,  Giovanni Chillemi,  Evelina Miele,  Lucia Pedace,  Martina Rinelli,  Simone Pizzi,  Luigi Boccuto,  Giovanna Stefania Colafati,  Mariachiara Lodi,  Antonella Cacchione,  Andrea Carai,  Maria Cristina Digilio,  Paolo Tomà,  Marco Tartaglia,  Angela Mastronuzzi, 
  • Pages: 2796-2802
  • First Published: 11 June 2022

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Prepubertal onset of type 2 diabetes in Shashi–Pena syndrome due to ASXL2 mutation

Siobhan A. Murphy,  Niamh E. O'Rourke,  Michael Joseph O'Grady, 
  • Pages: 2803-2807
  • First Published: 18 June 2022
Open Access

Third reported patient with RAP1B-related syndromic thrombocytopenia and novel clinical findings

Dana Miller,  Azhar Saeed,  Andrew C. Nelson,  Matthew Bower,  Anjali Aggarwal, 
  • Pages: 2808-2814
  • First Published: 22 April 2022

CASE REPORTS IN DIVERSE POPULATIONS

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A Novel nonsense variant in the CDH2 gene associated with ACOGS: A case report

Momen Kanjee,  Cigdem Yuce Kahraman,  Pelin Ercoskun,  Abdulgani Tatar,  Mustafa Kahraman, 
  • Pages: 2815-2818
  • First Published: 16 June 2022
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Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype

Marta Pacio-Miguez,  Manuel Parrón-Pajares,  Christopher T. Gordon,  Fernando Santos-Simarro,  Carmen Rodríguez Jiménez,  Rocio Mena,  Inmaculada Rueda Arenas,  Victoria Eugenia F. Montaño,  María Fernández,  Mario Solís,  Ángela del Pozo,  Jeanne Amiel,  Sixto García-Miñaur,  María Palomares-Bralo, 
  • Pages: 2819-2824
  • First Published: 02 July 2022
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PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing

Prince Makay,  Gerrye Mubungu,  Aimée Mupuala,  Krista Bluske,  Carolyn Brown,  Sarah A. Schmidt,  Mamy Ngole,  Patrick Fuanani,  Denise L. Perry,  Prosper Lukusa,  Koenraad Devriendt,  Ryan J. Taft,  Aimé Lumaka, 
  • Pages: 2825-2831
  • First Published: 07 June 2022

CORRESPONDENCE

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Letter to the Editor Regarding Lavanya et al. A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features

Yu Wang,  Julie Richer,  Santhi K. Ganesh, 
  • Pages: 2832-2833
  • First Published: 28 June 2022

RAPID COMMUNICATION

Open Access

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy

Paul R. Mark, 
  • Pages: 2834-2849
  • First Published: 29 April 2022