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Brief Reports December 6 2023

A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19

Giulia Parmeggiani; Raffaella Minardi; Antonella Boni; Jacopo Pruccoli; Antonella Pini; Laura Licchetta; Francesca Bisulli; Claudio Graziano; Marco Seri

Mol Syndromol (2023) https://doi.org/10.1159/000535144

View articletitled, A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19

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Case Reports December 4 2023

Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome

Elisa Rahikkala; Taneli Väisänen; Liisa Ojala; Pia Pohjola; Minna Toivonen; Riitta Parkkola; Maria K. Haanpää

Mol Syndromol (2023) https://doi.org/10.1159/000534772

View articletitled, Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome

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Case Reports November 27 2023

A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency

Hacer Basan; Emine Azak; İbrahim İlker Çetin; Esra Kılıç; Berrak Bilginer Gürbüz; Sümeyra Zeynep Özbey; Çiğdem Seher Kasapkara

Mol Syndromol (2023) https://doi.org/10.1159/000534932

View articletitled, A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency

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Case Reports November 14 2023

A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families

Pınar Özkan Kart; Yavuz Sahin; Nihal Yıldız; Alper Han Cebi; Gulnur Esenulku; Ali Cansu

Mol Syndromol (2023) https://doi.org/10.1159/000534785

View articletitled, A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families

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Case Reports November 13 2023

A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome

Murat Erdogan; Suleyman Sunkak; Oguzhan Bahadır; Muhammet Ensar Doğan; Yasin Ada; Burhan Balta

Mol Syndromol (2023) https://doi.org/10.1159/000534624

View articletitled, A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome

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Case Reports November 8 2023

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis

Aysenur Engin Erdal; Oya Kıreker Köylü; Ahmet Cevdet Ceylan; Çiğdem Seher Kasapkara; Ebru Tunçez; Meral Topçu

Mol Syndromol (2023) https://doi.org/10.1159/000534587

View articletitled, Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis

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Case Reports November 3 2023

Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report

Zhour El Amrani; Abdelhafid Natiq; Aziza Sbiti; Ilham Ratbi; Thomas Liehr; Abdelaziz Sefiani; Maryem Sahli

Mol Syndromol (2023) https://doi.org/10.1159/000534432

View articletitled, Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report

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Case Reports November 3 2023

Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype

Vehap Topcu; Said Furkan Yildirim; Husnu Mutlu Turan

Mol Syndromol (2023) https://doi.org/10.1159/000534031

View articletitled, Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype

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Case Reports October 27 2023

Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome

Cansu Kethuda Ensert Cihan; Halil Tuna Akar; Yılmaz Yıldız; Merve Sogukpinar; Gulen Eda Utine; Hasan Tolga Çelik

Mol Syndromol (2023) https://doi.org/10.1159/000534380

View articletitled, Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome

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Research Articles October 20 2023

Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study

Zeynep Selcan Şanli; Özlem Anlaş

Mol Syndromol (2023) https://doi.org/10.1159/000534243

View articletitled, Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study

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Research Articles October 16 2023

TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2

Nahid Vafaei; Ali Mohebbi; Zahra Rezaei; Morteza Heidari; Sareh Hosseinpour; Ali Zare Dehnavi; Azin Ghamari; Masoud Salehipour; Ali Rabbani; Nejat Mahdieh; Mahmoud Reza Ashrafi

Mol Syndromol (2023) https://doi.org/10.1159/000534100

View articletitled, TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2

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Research Articles October 16 2023

Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders

Hamide Betul Gerik-Celebi; Gul Unsel-Bolat; Hilmi Bolat

Mol Syndromol (2023) https://doi.org/10.1159/000534123

View articletitled, Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders

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Research Articles October 16 2023

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

Cüneyd Yavaş; Nehir Ozdemir Ozgenturk; Mustafa Dogan; Alper Gezdirici; Ece Keskin; Ezgi Gokpınar İli; Tunay Dogan; Evrim Celebi; Onur Bender; Cemal Un

Mol Syndromol (2023) https://doi.org/10.1159/000533915

View articletitled, A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

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Research Articles October 16 2023

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels

Gamze Sarıkaya Uzan; Ceren Yılmaz Uzman; Tayfun Çinleti; Çağatay Günay; Ayfer Ülgenalp; Semra Hiz Kurul; Uluç Yiş

Mol Syndromol (2023) https://doi.org/10.1159/000533976

View articletitled, Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels

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Corrections/Errata October 12 2023

Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society

Mol Syndromol (2023) https://doi.org/10.1159/000534309

View articletitled, Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society

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Case Reports October 2 2023

A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate

Aysenur Kardas Yildiz; Ali Bulbul; Buse Ozer Bekmez; Ayberk Turkyilmaz; Kerem Terali; Aydilek Dagdeviren Cakir; Ahmet Ucar

Mol Syndromol (2023) https://doi.org/10.1159/000533986

View articletitled, A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate

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Research Articles September 29 2023

Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis

Karam Yahya Belmokhtar; Imane Cherkaoui; Saida Lhousni; Mounia Elidrissi Errahhali; Manal Elidrissi Errahhali; Majida Charif; Redouane Boulouiz; Meryem Ouarzane; Aziza Elouali; Ayad Ghanam; Abdeladim Babakhouya; Maria Rkain; Noufissa Benajiba; Mohammed Bellaoui

Mol Syndromol (2023) https://doi.org/10.1159/000533894

View articletitled, Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis

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Case Reports September 28 2023

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene

Yasemin Kendir-Demirkol; Burcu Yeter; Laura A. Jenny

Mol Syndromol (2023) https://doi.org/10.1159/000533733

View articletitled, Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene

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Case Reports September 18 2023

Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement

Yong Wu; Chuanning Liao; Yamei Xie; Lingxi Wang

Mol Syndromol (2023) https://doi.org/10.1159/000531769

View articletitled, Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement

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Research Articles September 13 2023

Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population

Haibo Tan; Zhixue Wang; Jiaxuan Zhang; Maohua Huang; Jide Chen; Fengqi Li; Liangjun Tang

Mol Syndromol (2023) https://doi.org/10.1159/000533637

View articletitled, Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population

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Case Reports September 8 2023

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature

Margherita Baga; Ivan Ivanovski; Gianluca Contrò; Stefano Giuseppe Caraffi; Carlotta Spagnoli; Carlo Alberto Cesaroni; Alberto Neri; Francesca Peluso; Marzia Pollazzon; Livia Garavelli; Carlo Fusco

Mol Syndromol (2023) https://doi.org/10.1159/000530410

View articletitled, Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature

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Case Reports August 22 2023

Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report

Lucas Augusto Hauschild; Taciana Seixas Maia da Silva; Pablo Brea Winckler; Laércio Moreira Cardoso-Júnior; Jonas Alex Morales Saute; Karina Carvalho Donis

Mol Syndromol (2023) https://doi.org/10.1159/000533219

View articletitled, Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report

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Commentaries August 18 2023

Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease

Burcu Civelek Ürey; Ahmet Cevdet Ceylan; Büşranur Cavdarlı; Ayşegül Neşe Çıtak Kurt; Oya Kıreker Köylü; Burak Yürek; Çiğdem Seher Kasapkara

Mol Syndromol (2023) https://doi.org/10.1159/000531668

View articletitled, Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease

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Case Reports August 18 2023

A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene

Jorge Román Corona-Rivera; Izabel Maryalexandra Rios-Flores; Juan Carlos Zenteno; Christian Peña-Padilla; Katia Castillo-Reyes; Lucina Bobadilla-Morales; Alfredo Corona-Rivera; Elizabeth Acosta-Fernández; Alejandro Bruckman-Jiménez

Mol Syndromol (2023) https://doi.org/10.1159/000531934

View articletitled, A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene

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Case Reports August 14 2023

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability

Karima Rafat; Mohamed S. Abdel-Hamid; Ghada M.H. Abdel-Salam

Mol Syndromol (2023) https://doi.org/10.1159/000531715

View articletitled, Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability

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Case Reports August 10 2023

Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome

Faranak Roudbari; Amir-Reza Dallal Amandi; Mortaza Bonyadi; Leyla Sadeghi; Neda Jabbarpour

Mol Syndromol (2023) https://doi.org/10.1159/000531566

View articletitled, Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome

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Research Articles August 7 2023

TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature

Eyyup Uctepe; Ahmet Yesilyurt; Fatma Nisa Esen; Sait Tümer; Hanifenur Mancılar; Fatma Mujgan Sonmez

Mol Syndromol (2023) https://doi.org/10.1159/000531439

View articletitled, TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature

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Case Reports August 7 2023

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

Hatice Ceren Eser; Durdugul Ayyildiz Emecen; Ezgi Topyildiz; Esra Isik; Neslihan Edeer Karaca; Tahir Atik; Guzide Aksu; Ferda Ozkinay; Necil Kutukculer

Mol Syndromol (2023) https://doi.org/10.1159/000531408

View articletitled, Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

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Case Reports August 4 2023

Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature

Sinem Kocagil; İkbal Nur Şafak; Elif Saraç; Can Aydın; Sevilhan Artan; Birgül Kırel

Mol Syndromol (2023) https://doi.org/10.1159/000531429

View articletitled, Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature

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Research Articles July 7 2023

Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review

Aida Ghasemi; Zahra Sadr; Mojgan Babanejad; Mohammad Rohani; Afagh Alavi

Mol Syndromol (2023) https://doi.org/10.1159/000531507

View articletitled, Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review

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Commentaries July 3 2023

SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven

JOSEF FINSTERER

Mol Syndromol (2023) https://doi.org/10.1159/000531506

View articletitled, SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven

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Research Articles June 26 2023

Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia

Naoto Sugeno; Takafumi Hasegawa; Kazuhiro Haginoya; Takafumi Kubota; Kensuke Ikeda; Takaaki Nakamura; Shun Ishiyama; Kazuki Sato; Shun Yoshida; Eriko Koshimizu; Mitsugu Uematsu; Satoko Miyatake; Naomichi Matsumoto; Masashi Aoki

Mol Syndromol (2023) https://doi.org/10.1159/000530625

View articletitled, Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia

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Research Articles June 20 2023

Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation

Muhammad Bilal; Tobias B. Haack; Rebecca Buchert; Susana Peralta; Imtiaz Ahmad; Faisal; Sanaullah Abbasi; Wasim Ahmad

Mol Syndromol (2023) https://doi.org/10.1159/000531069

View articletitled, Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation

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Case Reports June 7 2023

A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene

Tuna Eren Esen; Özlem Ünal Uzun; Ahmet Cevdet Ceylan

Mol Syndromol (2023) https://doi.org/10.1159/000530798

View articletitled, A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene

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Case Reports May 26 2023

A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient

Drenushe Zhuri; Fulya Dusenkalkan; Guzin Tunca Alparslan; Hakan Gurkan

Mol Syndromol (2023) https://doi.org/10.1159/000530585

View articletitled, A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient

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Case Reports May 12 2023

Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review

Carlo Alberto Cesaroni; Carlotta Spagnoli; Margherita Baga; Susanna Rizzi; Daniele Frattini; Stefano Giuseppe Caraffi; Marzia Pollazzon; Livia Garavelli; Carlo Fusco

Mol Syndromol (2023) https://doi.org/10.1159/000530586

View articletitled, Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review

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