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Case Report
Open Access

oa

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications
Ariel Tarrell, Jessika Weber, Reem Shawar, Luca Brunelli, Susan Morelli, Pinar Bayrak-Toydemir, Elizabeth Doughty, Gulsen Akay, Lorenzo D. Botto, Emily Flemming, N. Scott Reading, Catalina Jaramillo,

First published: 01 July 2025
Case Report
Open Access

oa

Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia
Matthew R. Gregory, Khurram Liaqat, Kayla Treat, Kathryn M. Haider, Francesco Vetrini, Erin Conboy,

First published: 27 May 2025
Case Report
Open Access

oa

A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report
Randah Abdullah Dahlan, Roaa Hani Fairoozy,

First published: 28 April 2025
Case Report
Open Access

oa

Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5’s Role Beyond Familial Epilepsy: A Case Report and Literature Review
Rory Edwards, Grace Murphy, Joshua W. Owens, Craig Erickson, Robert Hopkin, Amelle Shillington,

First published: 02 April 2025
Case Report
Open Access

oa

Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants
Emily S. Levine, Nidhi D. Shah, Erin M. Salcone,

First published: 11 March 2025
Case Report
Open Access

oa

Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome
Navid Roodaki, Leigh Michelle Salinas, Ebner Bon G. Maceda, Jorelyn Frias,

First published: 04 March 2025
Case Report
Open Access

oa

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report
Hasan Hasan, Ellery R. Santos, Seyedeh Ala Mokhtabad Amrei, Flora Tassone, Jamie Leah Randol, Paul Hagerman, Randi J. Hagerman,

First published: 13 January 2025
Case Report
Open Access

oa

A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case
Jose G. Acuña-Ochoa, Norma A. Balderrábano-Saucedo, Ana C. Cepeda-Nieto, Maria Y. Alvarado-Cervantes, Vianca L. Ibarra-Garcia, Daniel Barr, Matthew J. Gage, Ryan Pfeiffer, Dan Hu, Hector Barajas-Martinez,

First published: 28 December 2024
Case Report
Open Access

oa

Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H)
Kenichi Mishima, Hiroshi Kitoh, Anna Shiraki, Kenta Sawamura, Yasunari Kamiya, Masaki Matsushita, Shiro Imagama,

First published: 17 December 2024
Case Report
Open Access

oa

A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency
Ting Wen, Brian J. Shayota, Lauren Wallace, Coumarane Mani, Neal Davis, Jian Zhao,

First published: 27 November 2024
Case Report
Open Access

oa

Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review
Charbel Saad, Christine Aoun, Charbel Iskandar, Tony Hayek, Maroun Matar, Andre Megarbane,

First published: 21 November 2024
Case Series
Open Access

oa

Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India
Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur,

First published: 22 August 2024
Case Report
Open Access

oa

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis
Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro,

First published: 15 August 2024
Case Report
Open Access

oa

Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1
Yifei Xu, Yuki Tsurinaga, Tsubasa Matsumoto, Ryuji Muta, Taichi Yano, Hiroshi Sakaida, Sawako Masuda, Koki Ueda, Guofei Feng, Shimpei Gotoh, Satoru Ogawa, Makoto Ikejiri, Kaname Nakatani, Mizuho Nagao, Masaki Tanabe, Kazuhiko Takeuchi,

First published: 09 August 2024
Case Report
Open Access

oa

Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis
Fiona Whitaker, Alvaro Serrano,

First published: 30 July 2024
Case Report
Open Access

oa

Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation
Madeline Snipes, Stephanie Stokes, Amy Vidalin, Lee D. Moore, Natalia Schlabritz-Lutsevich, James Maher,

First published: 16 July 2024
Case Report
Open Access

oa

A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature
Surasak Puvabanditsin, Ian Lee, Natasha Cordero, Keisha Target, Su Young Park, Rajeev Mehta,

First published: 29 June 2024
Case Report
Open Access

oa

Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate Hydratase
Solaleh Aminian, Fawaz Al-Alloosh, Fatemeh Yadegari, Shiva Zarinfam, Haider Hamza Al-Abedi, Keivan Majidzadeh-A.,

First published: 06 June 2024
Case Report
Open Access

oa

Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr Virus
Gaoyan G. Tang-Siegel, David W. Maughan, Milah B. Frownfelter, Alan R. Light,

First published: 09 May 2024
Case Report
Open Access

oa

Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia
Osama Obaid, Reem Batawi, Heba Alqurashi, Thana Ewis, Ahmad A. Obaid,

First published: 23 March 2024

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Case Reports in Genetics

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All Case Reports in Genetics Articles

oa

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications

oa

Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia

oa

A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report

oa

Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5’s Role Beyond Familial Epilepsy: A Case Report and Literature Review

oa

Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants

oa

Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome

oa

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report

oa

A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case

oa

Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H)

oa

A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency

oa

Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review

oa

Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India

oa

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis

oa

Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1

oa

Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis

oa

Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation

oa

A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature

oa

Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate Hydratase

oa

Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr Virus

oa

Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia

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oa A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications

oa Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia

oa A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report

oa Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5’s Role Beyond Familial Epilepsy: A Case Report and Literature Review

oa Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants

oa Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome

oa Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report

oa A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case

oa Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H)

oa A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency

oa Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review

oa Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India

oa A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis

oa Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1

oa Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis

oa Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation

oa A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature

oa Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate Hydratase

oa Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr Virus

oa Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia

oa

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications

oa

Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia

oa

A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report

oa

Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5’s Role Beyond Familial Epilepsy: A Case Report and Literature Review

oa

Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants

oa

Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome

oa

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report

oa

A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case

oa

Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H)

oa

A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency

oa

Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review

oa

Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India

oa

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis

oa

Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1

oa

Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis

oa

Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation

oa

A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature

oa

Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate Hydratase

oa

Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr Virus

oa

Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia