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  American Journal of Medical Genetics Part A: Volume 197, Issue 8

  August 2025

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ISSUE INFORMATION

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Table of Contents, Volume 197A, Number 8, August 2025

• e63759
• First Published: 02 July 2025

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

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Gene Therapy Holds Potential for Dravet Syndrome

• e63754
• First Published: 02 July 2025

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Multigenerational Study Helps Clarify Genome Mutation Rate

• e63756
• First Published: 02 July 2025

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In This Issue

• e63757
• First Published: 02 July 2025

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REVIEW ARTICLE

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An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families

Shaymaa Elsayed,  Gehad A. Elmakkawy,  Ibrahim M. Abdelrazek,  Dina A. Fawzy,  JiHye Kim,  YongJun Song,  Omneya M. Omar,  Ebtesam M. Abdalla, 

• e64068
• First Published: 26 March 2025

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ORIGINAL ARTICLE

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A Novel Heterozygous c.1024A>G Variant in BMPR1B Causes Either Isolated Brachydactyly Type A4 With Variable Expressivity or Incomplete Type A4 Overlapping Type D in a Chinese Han Pedigree

Xinyi Yang,  Xiaqing Wu,  Hua Li,  Runji Zhou,  Kai Guo,  Chunping Shang,  Songhua Zhao,  Mingyi Ma, 

• e64060
• First Published: 22 March 2025

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Obesity Prevalence in DDX3X-Related Neurodevelopmental Disorder

Giavanna Verdi,  Nathaniel H. Robin, 

• e64062
• First Published: 22 March 2025

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Decreased Level of TMEM100 in Neonates With Lethal Lung Developmental Disorders due to Abnormalities in SHH-FOXF1 and TBX4-FGF10 Signaling Pathways

Katarzyna Bzdęga,  Gail H. Deutsch,  Małgorzata Rydzanicz,  Witold Błaż,  Elżbieta Rafińska-Ważny,  Anna P. Terpin,  Dariia Klepach,  Valentyna Zakharova,  Rafał Płoski,  Tomasz Szczapa,  Justyna A. Karolak, 

• e64071
• First Published: 27 March 2025

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Extended Growth Curves for the Wolf-Hirschhorn Syndrome (4p-)

Amy R. U. L. Calhoun,  Amanda Lortz,  T. Charles Casper,  John C. Carey, 

• e64075
• First Published: 29 March 2025

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Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls

Emily R. Chedrawe,  Jessica Connors,  Angela Arra,  Katherine Dunn,  Kim Blake,  Johan van Limbergen, 

• e64053
• First Published: 03 April 2025

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Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita

Shahrzad Nematollahi,  Reggie C. Hamdy,  Harold van Bosse,  Joyce Li,  Daniel Blanshay-Goldberg,  Johanna I. P. de Vries,  Klaus Dieterich,  Isabel Filges,  Tanya Bedard,  Melissa Haendel,  Monica Munoz Torres,  Peter N. Robinson,  Noémi Dahan-Oliel, 

• e64067
• First Published: 03 April 2025

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Growth Charts for Children With Beckwith–Wiedemann Spectrum

Saskia M. Maas,  Peter Lauffer,  Guido Cocchi,  Madison DeMarchis,  Andrew M. George,  Alessandro Mussa,  Francesco Pellegrino,  Alexander M. J. Spaans,  Emma C. van den Brink,  Jan M. Wit,  Leonie A. Menke,  Jennifer M. Kalish, 

• e64073
• First Published: 04 April 2025

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Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

Laura Rigotti,  Stefano Rebellato,  Antonella Lettieri,  Silvia Castiglioni,  Milena Mariani,  Simona Totaro,  Claudia Saitta,  Cristina Gervasini,  Grazia Fazio,  Valentina Massa,  Giovanni Cazzaniga,  Angelo Selicorni, 

• e64076
• First Published: 05 April 2025

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Psychotropic Medication Use in 48,XXYY Syndrome

Joanna Dreyer,  Susan Howell,  Samantha Bothwell,  Kayla Molison,  Alexandra Carl,  Karli Swenson,  Shanlee Davis,  Gail Decker,  GALAXY consortia ,  Nicole Tartaglia, 

• e64077
• First Published: 07 April 2025

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Children With 22.Q.11.2 Deletion Syndrome: Sleep-Disordered Breathing and Management

Domenico Paolo La Regina,  Sonia Khirani,  Lucie Griffon,  Clément Poirault,  Raffaella Nenna,  Fabio Midulla,  Brigitte Fauroux, 

• e64069
• First Published: 09 April 2025

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Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome

Mangalore S. Shravya,  Greeshma Purushothama,  Periyasamy Radhakrishnan,  Malavika Hebbar,  Shyamala Guruvare,  Mary Mathew,  Gandham SriLakshmi Bhavani,  Shruti Bajaj,  Katta M. Girisha,  Anju Shukla,  Shalini S. Nayak, 

• e64086
• First Published: 12 April 2025

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CASE REPORT

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LARS2-Related Perrault Syndrome in Siblings With 46,XY Differences of Sex Development

Aaron P. Adam,  Lauren O'Sullivan,  Amanda Peterson,  Megan Yabumoto,  Paul Merguerian,  Margaret P. Adam, 

• e64064
• First Published: 22 March 2025

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Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima-Type Palmoplantar Keratoderma

Lilia Kazerooni,  Benjamin N. Vogel,  Abhik K. Banerjee,  Saba Jafarpour,  Jonathan D. Santoro, 

• e64058
• First Published: 24 March 2025

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Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult-Onset Leukoencephalopathy

Piervito Lopriore,  Gianmichele Migaleddu,  Pei-Chien Tsai,  Antonella Fogli,  Maria Adelaide Caligo,  Gabriele Siciliano,  Mirco Cosottini,  Yi-Chung Lee,  Yi-Chu Liao,  Michelangelo Mancuso,  Roberto Ceravolo,  Daniela Frosini, 

• e64065
• First Published: 26 March 2025

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Distal 1q Duplication and Distal 9p Deletion: A Follow-Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome

Jonas Helbig,  Jürgen Kunz,  Anca Mannhardt,  Ellen Gandaputra,  Christiane Kling, 

• e64066
• First Published: 28 March 2025

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Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants

Liza Douiev,  Paula Fernandez Alvarez,  Marika Frank,  Lucy Hanington,  Trevor L. Hoffman,  Mira B. Irons,  Jenny Kim,  Akash Kumar,  Amaia Lasa-Aranzasti,  Diana Le Duc,  Helen Livesey,  Oliver Murch,  Deborah Shears,  Brandon K. Walther,  Tamar Harel, 

• e64048
• First Published: 29 March 2025

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A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes

Devi Priyanka Maripuri,  Jessica Gold,  Nina Gold,  Alanna Strong, 

• e64050
• First Published: 01 April 2025

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Paroxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous TMEM151A Frameshift Variant: The First Case Report in Japan

Hirokazu Kurahashi,  Yoshiteru Azuma,  Tomoya Takeuchi,  Mayuko Shimada,  Shingo Numoto,  Mizuki Nishida,  Yoshinori Ito,  Tomoo Ogi,  Akihisa Okumura, 

• e64079
• First Published: 01 April 2025

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Biallelic Variant in LYSET Associated With Mucolipidosis II-Like Phenotype

Ariana Kariminejad,  Farzaneh Pouya,  Fatemeh Ahangari,  Saeed Talebi,  Fariba Afroozan,  Frans W. Verheijen,  Hossein Najmabadi,  Edwin H. Jacobs, 

• e64063
• First Published: 02 April 2025

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Tall Stature and Scoliosis Associated With a Novel Homozygous Loss-of-Function Missense Variant in NPR3

Pierre Moffatt,  Chantal Janelle,  Valancy Miranda,  Ghalib Bardai,  Frank Rauch, 

• e64080
• First Published: 02 April 2025

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A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome

Alejandro Parra,  Mario Cazalla,  Juan A. Jimenez-Estrada,  Cristina Silván,  Lucía Miranda-Alcaraz,  Natalia Gallego-Zazo,  Mónica Mora-Gómez,  Manuel Rodríguez-Canó,  Pedro Arias,  Carlos Rodríguez-Antolín,  Julián Nevado,  Víctor Luis Ruiz Pérez,  Jair Tenorio-Castano,  Pablo Lapunzina, 

• e64074
• First Published: 03 April 2025

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Non-Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype

Courtney P. Verscaj,  Michael Gordon,  Bradley D. Holbrook,  Olivia Maher Trocki,  Tabitha Poorvu,  Christina Miller,  Tammy Schwalbe,  Maija Trout,  Amy Zearfoss,  Angela Welker,  Monica H. Wojcik,  Abdallah F. Elias, 

• e64087
• First Published: 09 April 2025

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TYMS-ENOSF1 Dyskeratosis Congenita in a Patient With Ring Chromosome 18: A Case Report

Rayad B. Shams,  Elizabeth L. Nieman,  Yezmin Perilla-Young,  Dean S. Morrell,  Clara Hildebrandt, 

• e64081
• First Published: 10 April 2025

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Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1 -Related Kyphoscoliotic Ehlers-Danlos Syndrome

Federica Russo,  Cecilia Daolio,  Ester Di Muro,  Laura Pezzoli,  Lucrezia Goisis,  Lorenzo Vaccaro,  Maria Iascone,  Davide Cacchiarelli,  Marco Castori,  Lucia Micale, 

• e64085
• First Published: 10 April 2025

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Hypersensitivity Reaction and a Single-Bag Rapid Desensitization to Idursulfase

Jenna H. Jung,  Berrin Monteleone,  Meghan McGath,  Blanka Kaplan, 

• e64089
• First Published: 12 April 2025

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A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116

Jannis Buecking,  Yu An,  Weimin Bi,  Katrin Hinderhofer,  Susanne Theiß,  Anne Slavotinek,  Christian P. Schaaf, 

• e64070
• First Published: 15 April 2025

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Dentofacial Findings and Management of two Pediatric Patients With Bainbridge-Ropers Syndrome: A Case Report

Aslı Aşık,  Ezgi Cansu Fırıncıoğulları,  Enise Avcı Durmuşalioğlu,  Dilşah Çoğulu,  Tahir Atik,  Aslıhan Mediha Erdinç,  Ozgur Cogulu, 

• e64090
• First Published: 16 April 2025

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CASE REPORTS IN DIVERSE POPULATIONS

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Expanding the Phenotypic Spectrum of DPH2 -Related Disorder

Vykuntaraju K. Gowda,  Varunvenkat M. Srinivasan,  Uddhava V. Kinhal,  Sahana M. Srinivas,  Himani Pandey,  Nagaraja M. Phani,  Pavithra Dhayalan,  Devi Lal, 

• e64061
• First Published: 25 March 2025

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CORRESPONDENCE

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Takotsubo Syndrome in the Setting of Myotonic Dystrophy: A Neurogenic or Mechanically-Triggered Phenomenon?

Kenan Yalta,  Ugur Ozkan, 

• e64084
• First Published: 09 April 2025

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