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  American Journal of Medical Genetics Part A: Volume 194, Issue 3

  March 2024

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ISSUE INFORMATION

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Table of Contents, Volume 194A, Number 3, March 2024

• e63263
• First Published: 09 February 2024

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

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Susan D. Klugman, MD, FACOG, FACMG

• e63260
• First Published: 09 February 2024

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In This Issue

• e63261
• First Published: 09 February 2024

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ORIGINAL ARTICLES

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Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods

Adriana Inés Woods,  Débora Marina Primrose,  Juvenal Paiva,  Alicia Noemí Blanco,  María Fabiana Alberto,  Analía Sánchez-Luceros, 

• e63430
• First Published: 23 October 2023

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Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants

Soha Sewani,  Mahshid S. Azamian,  Bryce A. Mendelsohn,  Frederic Tran Mau-Them,  Manon Réda,  Sophie Nambot,  Bertrand Isidor,  Jasper J. van der Smagt,  Joseph J. Shen,  Amelle Shillington,  Lori White,  Houda Zghal Elloumi,  Peter R. Baker 2nd,  Shayna Svihovec,  Kathleen Brown,  Yvonne Koopman-Keemink,  Mariette J. V. Hoffer,  Inge M. M. Lakeman,  Elise Brischoux-Boucher,  Maria Kinali,  Xiaonan Zhao,  Seema R. Lalani,  Daryl A. Scott, 

• e63445
• First Published: 23 October 2023

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Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations

Swati Singh,  Prince Jacob,  Siddaramappa J. Patil,  Mamta Muranjan,  Hitesh Shah,  Katta M. Girisha,  Gandham SriLakshmi Bhavani, 

• e63422
• First Published: 24 October 2023

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45,X/46,XY mosaicism: Clinical manifestations and long term follow-up

Ebba Alkhunaizi,  Jenna Plamondon Albrecht,  Mahmoud Aarabi,  Selma F. Witchel,  Diane Wherrett,  Riyana Babul-Hirji,  Annie Dupuis,  Lyne Chiniara,  Eric Chater-Diehl,  Mary Shago,  Cheryl Shuman,  Aleksandar Rajkovic,  Svetlana A. Yatsenko,  David Chitayat, 

• e63451
• First Published: 26 October 2023

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Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review

Alexia Bourgois,  Varoona Bizaoui,  Cindy Colson,  Aline Vincent-Devulder,  Arnaud Molin,  Marion Gérard,  Nicolas Gruchy, 

• e63457
• First Published: 26 October 2023

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First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus

Xiang Chen,  Libing Yun,  Yang Long,  Yuxia Sun,  Tao Chen, 

• e63407
• First Published: 01 November 2023

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Arterial tortuosity in pediatric Loeys-Dietz syndrome patients

Laia Brunet-Garcia,  Pirasuja Prabaharan,  Luc Bruyndonckx,  Ella Field,  Felice D'Arco,  Claudio Capelli,  Elena Cervi, 

• e63465
• First Published: 02 November 2023

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Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2

Emma N. M. M. von Scheibler,  Josine C. C. Widdershoven,  Denise C. P. B. M. van Barneveld,  Nina Schröder,  Agnies M. van Eeghen,  Thérèse A. M. J. van Amelsvoort,  Erik Boot, 

• e63456
• First Published: 02 November 2023

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Understanding recessive disease risk in multi-ethnic populations with different degrees of consanguinity

Luis A. La Rocca,  Julia Frank,  Heidi Beate Bentzen,  Jean Tori Pantel,  Konrad Gerischer,  Anton Bovier,  Peter M. Krawitz, 

• e63452
• First Published: 03 November 2023

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Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives

Alessia Carrer,  Maria Giovanna Romaniello,  Maria Letizia Calderara,  Milena Mariani,  Andrea Biondi,  Angelo Selicorni, 

• e63459
• First Published: 05 November 2023

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Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia

Alison C. Leslie,  Mitchell P. Ward,  William B. Dobyns, 

• e63416
• First Published: 07 November 2023

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Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach

Leanne de Kock,  Alexanne Cuillerier,  Meredith Gillespie,  Madeline Couse,  Taila Hartley,  Wendy Mears,  Francois P. Bernier,  Albert E. Chudley,  Patrick Frosk,  Sarah M. Nikkel,  A. Micheil Innes,  Julie Lauzon,  Maryann Thomas,  Andrea Guerin,  Christine M. Armour,  Rosanna Weksberg,  James N. Scott,  Debra Watkins,  Shirley Harvey,  Cheryl Cytrynbaum,  Care4Rare Canada Consortium ,  Kristin D. Kernohan,  Kym M. Boycott, 

• e63466
• First Published: 10 November 2023

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Clinical phenotypes of individuals with Chung–Jansen syndrome across age groups

Khemika K. Sudnawa,  Sean Calamia,  Alexa Geltzeiler,  Wendy K. Chung, 

• e63471
• First Published: 13 November 2023

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CASE REPORTS

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Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence

Shogo Furukawa,  Mitsuhiro Kato,  Toshihiro Nomura,  Noriko Sumitomo,  Shota Yoneno,  Mitsuko Nakashima,  Hirotomo Saitsu, 

• e63453
• First Published: 23 October 2023

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New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant

Esra Kılıç,  Can Koşukcu, 

• e63449
• First Published: 24 October 2023

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Probable digenic inheritance of Diamond–Blackfan anemia

Yutaka Furuta,  Rory J Tinker,  Alican Gulsevin,  Serena M. Neumann,  Rizwan Hamid,  Joy D. Cogan,  Lynette Rives,  Qi Liu,  Hua-Chang Chen,  Karen M. Joos,  John A. Phillips III,  the Undiagnosed Diseases Network , 

• e63454
• First Published: 27 October 2023

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Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review

Tamara N. Kimball,  Pamela Rivero-García,  Alejandro Barrera-Godínez,  Judith Domínguez-Cherit, 

• e63446
• First Published: 01 November 2023

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Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK

Maria Bejerholm Boelman,  Thomas van Overeem Hansen,  Matthias Nybro Smith,  Sophia Hammer-Hansen,  Alex Hørby Christensen,  Birgitte Rode Diness, 

• e63458
• First Published: 03 November 2023

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Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature

Priya T. Bhola,  Radha Mishra,  Jennifer E. Posey,  Leslie E. Hamilton,  Gail E. Graham,  Jaya Punetha,  Care4Rare Canada Consortium ,  James R. Lupski,  Kym M. Boycott,  Damien D'Amours,  Kristin D. Kernohan, 

• e63455
• First Published: 03 November 2023

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Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes

Anjana Chandrasekhar,  Henry J. Mroczkowski,  Nora Urraca,  Andrew Gross,  Krista Bluske,  Erin Thorpe,  R. Tanner Hagelstrom,  Steven A. Schonberg,  Denise L. Perry,  Ryan J. Taft,  Akanchha Kesari, 

• e63462
• First Published: 06 November 2023

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Vertebral artery dissection caused by atlantoaxial dislocation in a patient with Marfan syndrome

Gianfranco Vornetti,  Benedetta Renzetti,  Giulio Vara,  Caterina Tonon,  Raffaele Lodi,  Alfredo Conti,  Elena Serchi,  Andrea Donti,  Elisabetta Mariucci,  Luca Spinardi, 

• e63467
• First Published: 07 November 2023

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A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly

Bridget J. Fellows,  Giovanna Cantini Tolezano,  Sara Ferreira Pires,  Mischa S. G. Ruegg,  Karen M. Knapp,  Ana Cristina Victorino Krepischi,  Louise S. Bicknell, 

• e63468
• First Published: 08 November 2023

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Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related

Rosario Ramos-Mejía,  Karen E. Heath,  Silvia Modamio-Høybjør,  Victoria Huckstadt,  Julián Calcagni,  Rodrigo Remondino,  Virginia Fano, 

• e63469
• First Published: 08 November 2023

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Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors

Matthew T. Snyder,  Joshua Manor,  Charul Gijavanekar,  Elizabeth Mizerik,  Stephen F. Kralik,  Sarah H. Elsea,  Keren Machol,  Lisa Emrick,  Fernando Scaglia, 

• e63461
• First Published: 12 November 2023

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Biallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting enteropathy

Yusriya Al Rawahi,  Omar Al Sunaidi,  Mohammed Al-Masqari,  Adawiya Al Jamei,  Dafalla Rahamtalla,  Almundher Al-Maawali, 

• e63474
• First Published: 13 November 2023

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RESEARCH LETTER

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Isolated cardiomyopathy in a pathogenic X-linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms

Rana Aljaberi,  Jaime Vengoechea, 

• e63475
• First Published: 13 November 2023

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ESSAY

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The importance of patient-specific resources for families dealing with prenatal rare diseases

Dhyanam P. Shukla,  Jennifer Ortiz Cutshall,  Lex van der Heijden,  Erica Schindewolf,  Sarah E. Sheppard, 

• e63450
• First Published: 20 October 2023

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CORRESPONDENCE

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The phenotypic heterogeneity of the variant m.5537_5538insT in MT-TW does not only depend on the heteroplasmy rates

Josef Finsterer, 

• e63437
• First Published: 18 October 2023

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CLINICAL ROUNDS

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A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance

Sihem Darouich,  Samia Darouich, 

• e63464
• First Published: 06 November 2023

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Calloso-adreno-scrotal agenesis associated with biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency

Sihem Darouich,  Samia Darouich, 

• e63463
• First Published: 06 November 2023

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IN MEMORIAM

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John M Opitz: Physician, morphologist, scholar, editor (1935–2023)

John C. Carey,  Jürgen Spranger,  Susan Lewin,  Giovanni Neri, 

• e63482
• First Published: 21 November 2023

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