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    American Journal of Medical Genetics Part A: Volume 194, Issue 12

    December 2024
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COVER IMAGE

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Cover Image, Volume 194A, Number 12, December 2024

  • First Published: 05 November 2024
Cover Image, Volume 194A, Number 12, December 2024

The cover image is based on the article Expanding the clinical phenotype and variant spectrum associated with RFX7 by Talia Sisroe et al., https://doi.org/10.1002/ajmg.a.63816. Image Credit: Brandon L Holt.

ISSUE INFORMATION

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Table of Contents, Volume 194A, Number 12, December 2024

  • First Published: 05 November 2024

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

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Gene Therapy Delivery Vector Crosses the Blood-Brain Barrier

  • First Published: 05 November 2024
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Ethics of DNA Testing to Determine Nationality

  • First Published: 05 November 2024
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In This Issue

  • First Published: 05 November 2024

ORIGINAL ARTICLE

Open Access

Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors

Rahi Patel,  Agnes Y. Park,  Elaine Marchi,  Andrea L. Gropman,  Matthew T. Whitehead,  Gholson J. Lyon, 
  • First Published: 16 July 2024
Full Access

Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry

Natalia Klamut,  Samantha Bothwell,  Alexandra E. Carl,  Vaneeta Bamba,  Jennifer R. Law,  Wendy J. Brickman,  Karen O. Klein,  Roopa Kanakatti Shankar,  Catherina T. Pinnaro,  Patricia Y. Fechner,  Siddharth K. Prakash,  Iris Gutmark-Little,  Susan Howell,  Nicole Tartaglia,  Marybel Good,  Kelly C. Ranallo,  Shanlee M. Davis, 
  • First Published: 17 July 2024
Open Access

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1

Jian Gao,  Athina Ververi,  Ellen Thompson,  Rob Tryon,  Alexandros Sotiriadis,  Fotios Rouvalis,  Dorothy K. Grange,  Christos Giannios,  Colin G. Nichols, 
  • First Published: 19 July 2024
Open Access

Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes

Tomoki T. Nomakuchi,  Eden Y. Teferedegn,  Dong Li,  Kayla J. Muirhead,  Holly Dubbs,  Jacqueline Leonard,  Colleen Muraresku,  Emily Sergio,  Kaley Arnold,  Amy Pizzino,  Cara M. Skraban,  Elaine H. Zackai,  Kai Wang,  Rebecca D. Ganetzky,  Adeline L. Vanderver,  Rebecca C. Ahrens-Nicklas,  Elizabeth J. K. Bhoj, 
  • First Published: 19 July 2024
Open Access

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion

Cristina Chelleri,  Noemi Brolatti,  Patrizia De Marco,  Marzia Ognibene,  Maria Cristina Diana,  Francesca Madia,  Marco Di Duca,  Andrea Santangelo,  Valeria Capra,  Pasquale Striano,  Federico Zara,  Marcello Scala, 
  • First Published: 19 July 2024
Open Access

Long-read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities

Kristen L. Sund,  Jie Liu,  Joyce Lee,  John Garbe,  Zakia Abdelhamed,  Chelsey Maag,  Barbara Hallinan,  Steven W. Wu,  Ethan Sperry,  Archana Deshpande,  Rolf Stottmann,  Teresa A. Smolarek,  Lisa M. Dyer,  Matthew S. Hestand, 
  • First Published: 23 July 2024
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Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese

Yue Dong,  Milan Jia,  Shuang Tan,  Xu-Ying Li,  Yang Song,  Xianling Wang,  Zhanjun Wang,  Chaodong Wang, 
  • First Published: 26 July 2024
Open Access

Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort

Michael Boechler,  Yi-Ping Fu,  Neelam Raja,  Emily Ruiz-Escobar,  Likitha Nimmagadda,  Sharon Osgood,  Mark D. Levin,  Colleen Hadigan,  Beth A. Kozel, 
  • First Published: 29 July 2024
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Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers

Magnolia G. Wang,  Kristen Lancaster,  Cynthia M. Powell, 
  • First Published: 29 July 2024
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A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system

Yaoping Wang,  Hongdan Wang,  Wenke Yang,  Han Guo,  Mengting Zhang,  Yue Gao,  Bing Kang,  Shixiu Liao, 
  • First Published: 02 August 2024
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Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome

Marc Ventayol-Guirado,  Laura Torres,  Victor Asensio-Landa,  Ángeles Pérez-Granero,  Maria Isabel Madrid,  Jessica Hernandez-Rodriguez,  Maria Victoria Llull-Alberti,  Javier Lumbreras,  Silvia Escribà,  Monserrat Pons,  Jordi Roldan,  Iciar Martínez-López,  Damian Heine-Suñer,  Fernando Santos-Simarro, 
  • First Published: 02 August 2024
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Prevalence rates for ectodermal dysplasia syndromes

Clayton Butcher,  Becky M. Abbott,  Dorothy Grange,  Mary Fete,  Beau Meyer,  Christine Spinka,  Timothy Fete, 
  • First Published: 09 August 2024
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Improving genetic testing utilization in a tertiary care neonatal intensive care unit through quality improvement

Andrew T. Jacobsmeyer,  Talia L. Buitrago-Mogollon,  Blanche White,  Jasmyne-Rian Charles,  Jessica P. Clarke-Pounder,  Jodi Amador,  Lauren B. Carter, 
  • First Published: 12 August 2024
Open Access

Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease

Dinah Clark,  Robert Burns,  Michelle S. Bloom,  Karen Phaik Har Lim,  Lili Li,  Lisa M. Vincent,  Jing Xie,  Yuan Xue,  Sumit Punj, 
  • First Published: 13 August 2024
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Regions of Homozygocity size patterns among diverse ethnic groups in Israel: Toward tailored diagnostic reporting thresholds

Idit Maya,  Michal Levy,  Reut Matar,  Sarit Kahana,  Ifaat Agmon-Fishman,  Cochava Klein,  Merav Gurevitch,  Lina Basel-Salmon,  Lena Sagi-Dain, 
  • First Published: 15 August 2024
Open Access

Longitudinal echocardiography in pediatric patients with hypermobile Ehlers-Danlos syndrome

Hannah Lahey,  Haewon Shin,  Katherine Myers,  Kim L. McBride, 
  • First Published: 16 August 2024
Open Access

Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review

Alex F. Nisbet,  Aravind Viswanathan,  Andrew M. George,  Pedro Arias,  Steven D. Klein,  Julian Nevado,  Alejandro Parra,  Patricia Pascual,  Dominic J. Romeo,  Jair Tenorio-Castaño,  Jesse A. Taylor,  Elaine H. Zackai,  Pablo Lapunzina,  Jennifer M. Kalish, 
  • First Published: 19 August 2024

CASE REPORT

Open Access

Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature

Carolina Maya-González,  Angelica Maria Delgado-Vega,  Fulya Taylan,  Kristina Lagerstedt Robinson,  Lina Hansson,  Niklas Pal,  Henrik Fagman,  Florian Puls,  Sandra Wessman,  Jakob Stenman,  Kleopatra Georgantzi,  Susanne Fransson,  Teresita Díaz De Ståhl,  Torben Ek,  Ruth Palmer,  Bianca Tesi,  Per Kogner,  Tommy Martinsson,  Ann Nordgren, 
  • First Published: 11 July 2024
Open Access

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy

Pauline Plante-Bordeneuve,  Simon Boussion,  Mélanie Rama,  Perrine Brunelle,  Caroline Thuillier,  Clémence Vanlerberghe,  Roseline Caumes,  Cindy Colson,  Emilie Ait-Yahya,  Jamal Ghoumid,  Thomas Smol, 
  • First Published: 12 July 2024
Open Access

Expanding the clinical phenotype and variant spectrum associated with RFX7

Talia Sisroe,  Attila Dos Santos,  Alyssa L. Rippert,  Christopher Gray,  Cara M. Skraban,  Beverly Nelson,  Sarah Tefft,  Ingo Helbig,  Dong Li,  Elizabeth J. Bhoj,  Andrew K. Sobering, 
  • First Published: 15 July 2024
Open Access

Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder

Jorge L. Rodriguez-Gil,  Peter L. Nagy,  Uta Francke, 
  • First Published: 16 July 2024
Open Access

Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion

A. Mitrakos,  K. Kekou,  F.-N. Tilemis,  M. Svingou,  G. Papadimas,  C. Sofocleous,  J. Traeger-Synodinos,  M. Tzetis, 
  • First Published: 22 July 2024
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Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet

Aaron B. Bowen,  Otto Rapalino,  Camilo Jaimes,  Eva-Maria Ratai,  Yingyi Zhong,  Elizabeth A. Thiele,  Amy Kritzer,  Rebecca D. Ganetzky,  Nina B. Gold,  Melissa A. Walker, 
  • First Published: 26 July 2024
Open Access

Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1

Jack Herbster,  Carlos E. Prada,  Carly A. Rasmussen,  Allegra Quadri,  Victoria Kuritza,  Michael Viglione,  Sheryl Hoyer, 
  • First Published: 05 August 2024
Open Access

Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1)

Lauren Brady,  Rashmi Yadav,  Andrew C. Edmondson,  Mark Tarnopolsky, 
  • First Published: 09 August 2024
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Double somatic mosaicism in Marfan syndrome

Ignacio Arroyo Carrera,  Almudena Amor-Salamanca,  Elena Márquez Isidro,  Marlene Pérez-Barbeito,  Ana Raquel Barrio Sacristán,  Juan Pablo Ochoa, 
  • First Published: 16 August 2024
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CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus

Amaro Freire de Queiroz Júnior,  Maria Teresa Vieira Sanseverino,  Marcus Vinicius Martins Collares,  Adriana Fornari,  Luiza Amaral do Virmond,  João Bosco Oliveira Filho,  Osvaldo Artigalás,  Têmis Maria Félix, 
  • First Published: 16 August 2024
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Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda

Abdullah Sezer,  Zeynep Özdemir,  Erdem Özkan,  Semra Çetinkaya, 
  • First Published: 16 August 2024

RESEARCH LETTER

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Subtle phenotypes of Mowat–Wilson syndrome in a patient with a novel ZEB2 C-ZF domain variant

Yukiko Kuroda,  Takuya Naruto,  Kenji Kurosawa, 
  • First Published: 18 July 2024

CORRECTION

Free Access

Correction to “Uniparental disomy of multiple chromosomes in two cases with a complex phenotype”

  • First Published: 12 August 2024