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    American Journal of Medical Genetics Part A: Volume 197, Issue 3

    March 2025
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ISSUE INFORMATION

Free Access

Table of Contents, Volume 197A, Number 3, March 2025

  • First Published: 11 February 2025

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

Deletions in the Chaserr Gene Linked to Neurodevelopmental Disorder

  • First Published: 11 February 2025

Lncrna Catalog Significantly Increased in Gencode

  • First Published: 11 February 2025
Free to Read

In This Issue

  • First Published: 11 February 2025

ORIGINAL ARTICLE

Recurrent Xp22.31-Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families

Marwa Daghsni,  Elizabeth Sheehan,  Suneeta Madan-Khetarpal,  Mahmoud Aarabi,  Selma F. Witchel,  Aleksandar Rajkovic,  Svetlana A. Yatsenko, 
  • First Published: 23 October 2024

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population

Namanpreet Kaur,  Michelle C. do Rosario,  Purvi Majethia,  Selinda Mascarenhas,  Lakshmi Priya Rao,  Karthik Vijay Nair,  Bhagesh Hunakunti,  Adarsh Pooradan Prasannakumar,  Rohit Naik,  Dhanya Lakshmi Narayanan,  Shalini S. Nayak,  Vivekananda Bhat,  Suvasini Sharma,  Y. Ramesh Bhat,  B. L. Yatheesha,  Rajesh Kulkarni,  Siddaramappa J. Patil,  Sheela Nampoothiri,  Shahyan Siddiqui,  Katta Mohan Girisha,  Stephanie Bielas,  Anju Shukla, 
  • First Published: 29 October 2024

New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients

Ana Isabel Sánchez Barbero,  Irene Valenzuela,  Paula Fernández-Alvarez,  Élida Vazquez,  Anna Maria Cueto-Gonzalez,  Amaia Lasa-Aranzasti,  Laura Trujillano,  Bárbara Masotto,  Elena García Arumí,  Eduardo F. Tizzano, 
  • First Published: 01 November 2024

Cyclic Vomiting Syndrome in Patients Affected by Jansen–de Vries Syndrome: Results From an International Survey

A. Pizzol,  K. A. Adams,  B. B. A. de Vries,  C. J. Curry,  P. L. Calvo, 
  • First Published: 04 November 2024
Open Access

Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency

Anna Lokchine,  Anne Bergougnoux,  Nadège Servant,  Linda Akloul,  Erika Launay,  Laura Mary,  Laurence Cluzeau,  Mathieu Philippe,  Mathilde Domin-Bernhard,  Solène Duros,  Sylvie Odent,  Elena Tucker,  Françoise Paris,  Marc-Antoine Belaud-Rotureau,  Sylvie Jaillard, 
  • First Published: 04 November 2024
Open Access

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series

Sara Gracie,  Prasannakumar Deshpande,  Patrik Hollos,  Karl De Dios,  Donna M. Martin,  Amanda B. Pritchard,  Jessica A. Scott Schwoerer,  Meghan R. Behrmann,  Laurie H. Seaver,  Kathleen Brown,  Raymond J. Fernandez,  Austin Larson,  Eleanor Coffey, 
  • First Published: 06 November 2024
Open Access

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta

Dominyka Batkovskyte,  Diana Swolin-Eide,  Anna Hammarsjö,  Kristine Bilgrav Sæther,  Sofia Thunström,  Johanna Lundin,  Jesper Eisfeldt,  Anna Lindstrand,  Ann Nordgren,  Eva Åström,  Giedre Grigelioniene, 
  • First Published: 08 November 2024

Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion

Ahmet Kablan,  Esma Ertürkmen Aru,  Süleyman Atar,  Aydeniz Aydin Gumus,  Ezgi Gökpınar İli,  Gulsum Kayhan,  Koray Tekin,  Fatma Silan, 
  • First Published: 11 November 2024

Characterizing and Evaluating the Structures of Combined Pediatrics and Medical Genetics and Genomics Residency Programs

Annie D. Niehaus,  David A. Stevenson, 
  • First Published: 13 November 2024

Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok–Campeau Syndrome

Xiaoling Tie,  Fengyu Che,  Siting Liu,  Lidangzhi Mo,  Liyu Zhang,  Benchang Li,  Ying Yang, 
  • First Published: 14 November 2024

The Glu86 Residue in TBX4 Proves Critical for Human Lung Development

Przemyslaw Szafranski,  Tomasz Gambin,  Gail Deutsch,  Salma A. Nassef,  Mary Clay Bailey,  Debra L. Kearney,  Paweł Stankiewicz, 
  • First Published: 17 November 2024

CASE REPORT

Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature

Dilek Cebeci,  Busranur Cavdarli,  Pinar Ozbudak,  Ebru Arhan,  Kivilcim Gucuyener,  Ercan Demir, 
  • First Published: 15 October 2024
Open Access

Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report

Buisine-Sbraggia Amélie,  Thevenon Julien,  Yauy Kevin,  Naud Marie-Emmanuelle,  Costa Jean-Marc,  Dubois-Teklali Fanny,  Willems Marjolaine,  Dieterich Klaus,  Satre Véronique,  Coutton Charles,  Pauline Le Tanno, 
  • First Published: 17 October 2024
Open Access

A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus

Naoya Saijo,  Hisao Yaoita,  Jun Takayama,  Chiharu Ota,  Eiichiro Kawai,  Masato Kimura,  Akira Ozawa,  Gen Tamiya,  Shigeo Kure,  Atsuo Kikuchi, 
  • First Published: 19 October 2024

Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant

Eriko Nishi,  Kumiko Yanagi,  Nobuhiko Okamoto,  Tadashi Kaname, 
  • First Published: 21 October 2024

Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases

Zöe Powis,  Jonathon Lutz,  Khalida Liaquat,  Jyes A. Querubin,  Sat Dev Batish, 
  • First Published: 23 October 2024

SOS1 -Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy—An Arrhythmia Phenotype?

Michael A. Cirelli Jr,  Philip Wackel,  Rabia Javed,  Ralitza Gavrilova,  M. Yasir Qureshi,  Joseph A. Dearani,  Lauren M. Boucher,  Talha Niaz, 
  • First Published: 23 October 2024
Open Access

Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants

Isis Atallah,  Katarina Cisarova,  Cécile Guenot,  Estelle Dubruc,  Andrea Superti-Furga,  Belinda Campos-Xavier,  Sheila Unger, 
  • First Published: 29 October 2024

ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry

Rachel Rabin,  Yoel Hirsch,  Kevin T. A. Booth,  Patricia L. Hall,  Naomi Yachelevich,  Pramod K. Mistry,  Josef Ekstein,  John Pappas, 
  • First Published: 30 October 2024
Open Access

Successful Pregnancy Outcome With Preconception Care in a Symptomatic Carrier of Duchenne Muscular Dystrophy: Case Report and Literature Review

Motoaki Kinugawa,  Mari Ichinose,  Haruka Matsui,  Zeng Xiang,  Seisuke Sayama,  Masatake Toshimitsu,  Takahiro Seyama,  Hitomi Masuda,  Hikoro Matsui,  Keiichi Kumasawa,  Takayuki Iriyama,  Yasushi Hirota,  Yutaka Osuga, 
  • First Published: 31 October 2024
Open Access

CTNND1-Related Disorder: New Insight on Prenatal Phenotype

B. Conti,  C. Di Napoli,  S. Hafdaoui,  V. Nicotra,  C. Cesaretti,  L. Runza,  V. Accurti,  S. Boito,  M. Iascone,  D. Marchetti,  R. Silipigni,  P. Finelli,  F. Natacci, 
  • First Published: 01 November 2024

Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions

Yan Dong,  Shuyue Zhang,  Hong Wang,  Xiaodong Jia,  Changshun Yu,  Weiran Li,  Ximeng Ma,  Xiaoli Yu,  Dong Li,  Jianbo Shu,  Chunquan Cai, 
  • First Published: 04 November 2024

Ring Chromosome 17 Syndrome—A Case Report and Discussion of Diagnostic Methods

Sun Young Kim,  Elizabeth Wohler,  Maria Jimena Gutierrez,  Christy Sadreameli,  Eric Kossoff,  Nara Lygia Sobreira, 
  • First Published: 08 November 2024
Open Access

A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delay

Lodin-Pasquier Magalie,  Capri Yline,  Patat Olivier,  Dozières-Puyravel Blandine,  Couque Nathalie, 
  • First Published: 09 November 2024
Open Access

Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1

Jenny Blechingberg,  Thorkild Terkelsen,  Uffe Birk Jensen,  Kirsten Rønholt,  Mette Sommerlund,  Hanne Vinter,  Lise Graversen, 
  • First Published: 10 November 2024
Open Access

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome

Erica L. Macke,  Anthony R. Miller,  Caitlyn M. Colwell,  Maria Hernandez Gonzalez,  Jesse Hunter,  Lakshmi Prakruthi Rao Venkata,  Lauren Walker,  Gregory Wheeler,  Richard K. Wilson,  Elaine R. Mardis,  Katherine E. Miller,  Mariam T. Mathew,  Bimal P. Chaudhari,  Yassmine Akkari, 
  • First Published: 13 November 2024

CASE REPORTS IN DIVERSE POPULATIONS

Expanding the Phenotype of NRROS -Related SENEBAC Syndrome

Varunvenkat M. Srinivasan,  Vykuntaraju K. Gowda,  Annsmol P. Markose,  Uddhava V. Kinhal,  Himani Pandey, 
  • First Published: 18 October 2024

Second Report of the p.Leu874Pro Missense Variant in  EPHB4 in a Family With Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM) Syndrome

Laura E. Goeser,  Leah Lalor,  Yvonne E. Chiu,  Michael Muriello, 
  • First Published: 21 October 2024

RESEARCH LETTER

Open Access

Coffin-Siris Syndrome and Unusual Angiogenic Profiles in Pregnancy: A Case Study Emphasizing Caution in Interpreting a Very Low sFlt-1/PlGF Ratio

Valentina Giardini,  Arianna Pelucchi,  Cecilia Daolio,  Marco Casati,  Patrizia Vergani,  Martina Lattuada,  Anna Locatelli, 
  • First Published: 13 November 2024

CORRESPONDENCE

Further Evidence for a Possible Role for ZFHX4 in Human Ocular Development and Disease

Linda M. Reis,  Gerald W. Zaidman,  Samuel Thompson,  Sanaa Muheisen,  Tom Glaser,  Elena V. Semina, 
  • First Published: 25 October 2024