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    American Journal of Medical Genetics Part A: Volume 194, Issue 6

    June 2024
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COVER IMAGE

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Cover Image, Volume 194A, Number 6, June 2024

  • First Published: 30 April 2024
Cover Image, Volume 194A, Number 6, June 2024

The cover image is based on the Clinical Rounds Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor by Fabienne Meier-Abt et al., https://doi.org/10.1002/ajmg.a.63528

ISSUE INFORMATION

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Table of Contents, Volume 194A, Number 6, June 2024

  • First Published: 30 April 2024

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

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Katherine M. Hyland, PhD

  • First Published: 30 April 2024
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Decoding and Modeling the Human Immune System

  • First Published: 30 April 2024
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In This Issue

  • First Published: 30 April 2024

REVIEW ARTICLE

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Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review

Stephanie G. Lee,  Gareth Evans,  Maddie Stephen,  Rachel Goren,  Melissa Bondy,  Steven Goodman, 
  • First Published: 28 January 2024

ORIGINAL ARTICLES

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Metabolic and other morbid complications in congenital generalized lipodystrophy type 4

Gulcin Akinci,  Saif Alyaarubi,  Nivedita Patni,  Nadia Alhashmi,  Azza Al-Shidhani,  Flavia Prodam,  Nancy Gagne,  Funmbi Babalola,  Aisha Al Senani,  Kavitha Muniraj,  Solaf M. Elsayed,  Marianna Beghini,  Basak Ozgen Saydam,  Moosa Allawati,  Madhumati S. Vaishnav,  Ender Can,  Ilgin Y. Simsir,  Ekaterina Sorkina,  Fatma Dursun,  Clemens Kamrath,  Umit Cavdar,  Partha P. Chakraborty,  Ozlem Akgun Dogan,  Aliya Al Hosin,  Ashwaq Al Maimani,  Nil Comunoglu,  Ahmed Hamed,  Tea Huseinbegovic,  Thomas Scherer,  Jacqueline Curtis,  Rebecca J. Brown,  Haluk Topaloglu,  Vinaya Simha,  Martin Wabitsch,  Beyhan Tuysuz,  Elif A. Oral,  Baris Akinci,  Abhimanyu Garg, 
  • First Published: 17 January 2024
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Understanding chronic pain in Neurofibromatosis Type 1 using the Neurofibromatosis Pain Module (NFPM)

Frank D. Buono,  Kaitlyn Larkin,  William T. Zempsky,  Lauretta E. Grau,  Staci Martin, 
  • First Published: 17 January 2024
Open Access

ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals

Samantha A. Schrier Vergano, 
  • First Published: 19 January 2024
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Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil

Michele P. Migliavacca,  Joselito Sobreira,  Diana Bermeo,  Mireille Gomes,  Dayse Alencar,  Luciane Sussuchi,  Camila Alves Souza,  Juliana Santos Silva,  José Eduardo Kroll,  Matheus Burger,  Rodrigo Guarischi-Sousa,  Darine Villela,  Guilherme L. Yamamoto,  Fernanda Milanezi,  Nelson Horigoshi,  Regina Grigolli Cesar,  Werther Brunow de Carvalho,  Rachel Sayuri Honjo,  Debora Romeo Bertola,  Chong Ae Kim,  Lucian de Souza,  Renato S. Procianoy,  Rita C. Silveria,  Carla Rosenberg,  Roberto Giugliani,  Gustavo Aguiar Campana,  Cristovam Scapulatempo-Neto,  Nara Sobreira, 
  • First Published: 23 January 2024
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Early diagnostic clues of mucolipidosis type II: Significance of radiological findings

Ezgi Burgac,  İrem Kaplan,  Burcu Köseci,  Esra Kara,  Deniz Kor,  Fatma Derya Bulut,  Anıl Atmış,  Ferhatcan Pişkin,  Sevcan Tuğ Bozdoğan,  Gizem Urel Demir,  Faruk İncecik,  Neslihan Önenli Mungan, 
  • First Published: 24 January 2024
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Feeding tube use and complications in Prader-Willi syndrome: Data from the Global Prader-Willi Syndrome Registry

Sani M. Roy,  Deborah Rafferty,  Amy Trejo,  Luke Hamilton,  Jessica E. Bohonowych,  Theresa V. Strong,  Lusine Ambartsumyan,  Samson Cantu,  Ann Scheimann,  Jessica Duis, 
  • First Published: 01 February 2024
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Prevalence and descriptive epidemiology of choanal atresia and stenosis in Texas, 1999–2018

Renata H. Benjamin,  Lisa K. Marengo,  Angela E. Scheuerle,  A. J. Agopian,  Laura E. Mitchell, 
  • First Published: 05 February 2024
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The impact of a virtual mind–body program on symptoms of depression and anxiety among international English-speaking adults with neurofibromatosis

Katherine McDermott,  Jafar Bakhshaie,  Julie Brewer,  Ana-Maria Vranceanu, 
  • First Published: 06 February 2024
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A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome

Martina Siracusano,  Caterina Dante,  Rachele Sarnataro,  Lucrezia Arturi,  Assia Riccioni,  Elisa Carloni,  Mariagrazia Cicala,  Leonardo Emberti Gialloreti,  Cinzia Galasso,  Giuseppina Conteduca,  Domenico Coviello,  Luigi Mazzone, 
  • First Published: 06 February 2024
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First-trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP-based amplicon sequencing: An earlier, rapid and safer way

Xinyu Fu,  Zhenhua Zhao,  Lingrong Kong,  Shaojun Li,  Feifei Li,  Xiujuan Han,  Luming Sun,  Di Wu,  Yanan Wang,  Xiangdong Kong, 
  • First Published: 08 February 2024
Open Access

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review

Noboru Uchida,  Tomohiro Ishii,  Gen Nishimura,  Takeshi Sato,  Gen Kuratsuji,  Keisuke Nagasaki,  Yuki Hosokawa,  Eriko Adachi,  Kei Takasawa,  Kenichi Kashimada,  Yuko Tsujioka,  Tomonobu Hasegawa, 
  • First Published: 09 February 2024
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EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

Irman Forghani,  Steven H. Lang,  Matthew J. Rodier,  Stephanie A. Bivona,  Undiagnosed Diseases Network ,  Alejo A. Morales,  Stephan Zuchner,  Guney Bademci,  Mustafa Tekin, 
  • First Published: 13 February 2024
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Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss

Duygu Duman,  Memoona Ramzan,  Asli Subasioglu,  Ahmet Mutlu,  LéShon Peart,  Serhat Seyhan,  Shengru Guo,  Kadri Ila,  Burhan Balta,  Mahmut Tayyar Kalcioglu,  Guney Bademci,  Mustafa Tekin, 
  • First Published: 14 February 2024
Open Access

Australian researcher's perspectives on the Australian industry-led moratorium on genetic tests in life insurance

Tatiane Yanes,  Marisa Blencoe,  Antonia Howard,  Jane Tiller,  Courtney Wallingford,  Margaret Otlowski,  Louise Keogh,  Paul Lacaze,  Aideen McInerney-Leo, 
  • First Published: 14 February 2024
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Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex

Melissa A. Richard,  Philip J. Lupo,  Erik A. Ehli,  Mustafa Sahin,  Darcy A. Krueger,  Joyce Y. Wu,  Elizabeth M. Bebin,  Kit Sing Au,  Hope Northrup,  Laura S. Farach,  TACERN Study Group , 
  • First Published: 17 February 2024

CASE REPORTS

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X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene

Adriana Mangue Esquiaveto-Aun,  Maricilda Palandi de Mello,  Mara Sanches Guaragna,  Vera Lúcia Gil da Silva Lopes,  Ana Paula Francese-Santos,  Cristiane dos Santos Cruz Piveta,  Taís Nitsh Mazolla,  Sofia Helena Valente de Lemos-Marini,  Gil Guerra-Junior, 
  • First Published: 19 January 2024
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Epilepsy in Legius syndrome: Coincidence or causation?

Adalbeis Medina Lemus,  Cyrus Boelman,  Kenneth A. Myers, 
  • First Published: 24 January 2024
Open Access

Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis

Duha Hejla,  Stephanie Huynh,  Simran Samra,  Phillip A. Richmond,  Joshua Dalmann,  Kate L. Del Bel,  Loryn Byres,  Anna Lehman,  Stuart E. Turvey,  Cornelius F. Boerkoel, 
  • First Published: 24 January 2024
Open Access

PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome

Michal Yacobi Bach,  Sivan Reytan Miron,  Alina Kurolap,  Hagit Baris Feldman, 
  • First Published: 31 January 2024
Open Access

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review

Ferruccio Romano,  Maria K. Haanpää,  Pawel Pomianowski,  Amanda Rose Peraino,  John R. Pollard,  Maria Francesca Di Feo,  Monica Traverso,  Mariasavina Severino,  Maria Derchi,  Edoardo Henzen,  Federico Zara,  Francesca Faravelli,  Valeria Capra,  Marcello Scala, 
  • First Published: 06 February 2024
Open Access

Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants

Martina De Bortoli,  Marta Ivars,  Nicole Revencu,  Marie-Cécile Nassogne,  Cinzia Lavarino,  Sonia Paco,  Martin Lammens,  Anne Renders,  Dana Dumitriu,  Raphaël Helaers,  Laurence M. Boon,  Eulalia Baselga,  Miikka Vikkula, 
  • First Published: 06 February 2024
Open Access

Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature

Davide Politano,  Fulvio D'Abrusco,  Ludovica Pasca,  Francesca Ferraro,  Simone Gana,  Jessica Garau,  Martina Paola Zanaboni,  Elisa Rognone,  Anna Pichiecchio,  Renato Borgatti,  Enza Maria Valente,  Valentina De Giorgis,  Romina Romaniello, 
  • First Published: 07 February 2024
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Monodactyly in a patient with CHARGE syndrome: An additional case report

Henrique Regonaschi Serigatto,  Roseli Maria Zechi-Ceide,  Isabella Parizotto,  Nancy Mizue Kokitsu-Nakata, 
  • First Published: 14 February 2024
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A case report on deficiency of adenosine deaminase 2 with relapse–remission course and analysis of genotype–phenotype correlation

Qianyun Cai,  Fan Feng,  Yanmei Tian,  Rong Luo,  Dezhi Mu,  Fan Yang,  Zuozhen Yang,  Zhongjie Zhou, 
  • First Published: 14 February 2024

RESEARCH LETTER

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Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria: A 22-year quest

Khanti Rattanapornsompong,  Wanna Chetruengchai,  Chalurmpon Srichomthong,  Thanakorn Theerapanon,  Thantrira Porntaveetus,  Vorasuk Shotelersuk, 
  • First Published: 02 February 2024

ESSAY

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Personal journeys to and in human genetics and dysmorphology

Charles E. Schwartz,  Arthur S. Aylsworth,  Judith Allanson,  Agatino Battaglia,  John C. Carey,  Cynthia J. Curry,  Kay E. Davies,  Evan E. Eichler,  John M. Graham Jr,  Bryan Hall,  Judith G. Hall,  Lewis B. Holmes,  H. Eugene Hoyme,  Alasdair Hunter,  Jeffrey Innis,  John Johnson,  Kim M. Keppler-Noreuil,  Jules G. Leroy,  Cynthia Moore,  David L. Nelson,  Giovanni Neri,  John M. Opitz,  David Picketts,  F. Lucy Raymond,  Stavit Allon Shalev,  Roger E. Stevenson,  Connie T. R. M. Stumpel,  Grant Sutherland,  David H. Viskochil,  David D. Weaver,  Elaine H. Zackai, 
  • First Published: 08 February 2024

CLINICAL ROUNDS

Open Access

Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor

Fabienne Meier-Abt,  Dennis Kraemer,  Nils Braun,  Michael Reinehr,  Eveline Stutz-Grunder,  Katharina Steindl,  Anita Rauch, 
  • First Published: 02 January 2024

CORRIGENDUM

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Corrigendum to “Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome”

  • First Published: 18 January 2024

ERRATUM

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Erratum to “De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities”

  • First Published: 07 February 2024