Clinical Genetics Editor's Choice

17 February 2019
7 March 2022
The following articles have been selected by the Editor due to their high-quality research
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2022

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Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

Hanadi A. Abdelrahman,  Nadia Akawi,  Aisha M. Al-Shamsi,  Amanat Ali,  Fatma Al-Jasmi,  Anne John,  Jozef Hertecant,  Lihadh Al-Gazali,  Bassam R. Ali, 
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

MMP15 bi-allelic loss-of-function mutations cause congenital heart defects.

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A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome

Nur Canpolat,  Dingxiao Liu,  Emine Atayar,  Seha Saygili,  Nazli Sila Kara,  Trudi A. Westfall,  Qiong Ding,  Bartley J. Brown,  Terry A. Braun,  Diane Slusarski,  Kader Karli Oguz,  Yasemin Ozluk,  Beyhan Tuysuz,  Tugba Tastemel Ozturk,  Lale Sever,  Osman Ugur Sezerman,  Rezan Topaloglu,  Salim Caliskan,  Massimo Attanasio,  Fatih Ozaltin, 
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome

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Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China

Lin Yang,  Zejun Wei,  Xiang Chen,  Liyuan Hu,  Xiaomin Peng,  Jin Wang,  Chunmei Lu,  Yanting Kong,  Xinran Dong,  Qi Ni,  Yulan Lu,  Bingbing Wu,  Huijun Wang,  Katia Meirelles,  Xia Tian,  Jing Zhang,  Fengqi Chang,  Liu Liu,  Changhua Li,  Wesley You,  Guoqiang Cheng,  Laishuan Wang,  Yun Cao,  Chao Chen,  Ping Fang,  Sha Tang,  Wenhao Zhou, 
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China

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A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability

Abdelkader Heddar,  Nathalie Guichoux,  Nathalie Auger,  Micheline Misrahi, 
A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability

2021

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Age of onset and behavioral manifestations in Huntington's disease: An Enroll-HD cohort analysis

Megha Ranganathan MS, CGC,  Sandra K. Kostyk MD, PhD,  Dawn C. Allain MS, LGC,  Jonathan A. Race PhD,  Allison M. Daley MS, MPH, LGC, 
Age of onset and behavioral manifestations in Huntington's disease: An Enroll-HD cohort analysis

Huntington's disease is a autosomal dominant trinucleotide repeat disorder that results in motor, behavioral and cognitive dysfunction. Onset is usually in midlife but symptoms may start in childhood or late in life. Age of onset in relation to behavioral presentations were explored using a large manifest cohort. An inverse relationship was noted between age of onset and behavioral symptom presentations, highlighting an age associated difference in phenotypic presentations of Huntington's disease.

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An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene

Kornelia Tripolszki,  Erina Sasaki,  Ronja Hotakainen,  Abdul Halim Kassim,  Catarina Pereira,  Arndt Rolfs,  Peter Bauer,  William Reardon,  Aida M. Bertoli-Avella, 
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene

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Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

Linda M. Reis,  Deborah Costakos,  Patricia G. Wheeler,  Tanya Bardakjian,  Adele Schneider,  Simon S. M. Fung,  University of Washington Center for Mendelian Genomics ,  Elena V. Semina, 
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

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A rare disease and education: Neurofibromatosis type 1 decreases educational attainment

Edvard Johansson,  Roope A. Kallionpää,  Petri Böckerman,  Juha Peltonen,  Sirkku Peltonen, 
A rare disease and education: Neurofibromatosis type 1 decreases educational attainment

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Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results

Katherine E. Donohue,  Catherine Gooch,  Alexander Katz,  Jessica Wakelee,  Anne Slavotinek,  Bruce R. Korf, 
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results

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Health-related quality of life in adults with osteogenesis imperfecta

Chaya N. Murali,  Brady Slater,  Salma Musaad,  David Cuthbertson,  Dianne Nguyen,  Alicia Turner,  Mahshid Azamian,  Laura Tosi,  Frank Rauch,  V. Reid Sutton,  Brendan Lee,  Members of the BBD Consortium ,  Sandesh C. S. Nagamani, 
Health-related quality of life in adults with osteogenesis imperfecta

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De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

Theresa Brunet,  Robert Jech,  Melanie Brugger,  Reka Kovacs,  Bader Alhaddad,  Gloria Leszinski,  Korbinian M. Riedhammer,  Dominik S. Westphal,  Isabella Mahle,  Katharina Mayerhanser,  Matej Skorvanek,  Sandrina Weber,  Elisabeth Graf,  Riccardo Berutti,  Ján Necpál,  Petra Havránková,  Petra Pavelekova,  Maja Hempel,  Urania Kotzaeridou,  Georg F. Hoffmann,  Steffen Leiz,  Christine Makowski,  Timo Roser,  Sebastian A. Schroeder,  Robert Steinfeld,  Gertrud Strobl-Wildemann,  Julia Hoefele,  Ingo Borggraefe,  Felix Distelmaier,  Tim M. Strom,  Juliane Winkelmann,  Thomas Meitinger,  Michael Zech,  Matias Wagner, 
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

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Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination

Salma Omer,  Sheng Chih Jin,  Rainelli Koumangoye,  Stephanie M. Robert,  Daniel Duran,  Carol Nelson-Williams,  Anita Huttner,  Michael DiLuna,  Kristopher T. Kahle,  Eric Delpire, 
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination

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Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta-analysis

Lucas Schenatto Sena,  Jordânia dos Santos Pinheiro,  Ali Hasan,  Maria Luiza Saraiva-Pereira,  Laura Bannach Jardim, 
Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta-analysis

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Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia

Xiaoli Wei,  Wensheng Liu,  Xingshen Zhu,  Youzhu Li,  Xiaoya Zhang,  Jing Chen,  Vladimir Isachenko,  Yanwei Sha,  Zhongxian Lu, 
Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia

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Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

Parneet Kaur,  Michelle C do Rosario,  Malavika Hebbar,  Suvasini Sharma,  Neethukrishna Kausthubham,  Karthik Nair,  Shrikiran A,  Ramesh Bhat Y,  Leslie Edward S Lewis,  Sheela Nampoothiri,  Siddaramappa J Patil,  Narayanaswami Suresh,  Sunita Bijarnia Mahay,  Ratna Dua Puri,  Shivanand Pai,  Anupriya Kaur,  Rakshith KC,  Nutan Kamath,  Shruti Bajaj,  Ali Kumble,  Rajesh Shetty,  Rathika Shenoy,  Mahesh Kamate,  Hitesh Shah,  Mamta N Muranjan,  Yatheesha BL,  K Shreedhara Avabratha,  Girish Subramaniam,  Rajagopal Kadavigere,  Stephanie Bielas,  Katta Mohan Girisha,  Anju Shukla, 
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

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The Thai reference exome (T-REx) variant database

Vorasuk Shotelersuk,  Duangdao Wichadakul,  Chumpol Ngamphiw,  Chalurmpon Srichomthong,  Chureerat Phokaew,  Alisa Wilantho,  Sujiraporn Pakchuen,  Vorthunju Nakhonsri,  Philip James Shaw,  Rujipat Wasitthankasem,  Jittima Piriyapongsa,  Pongsakorn Wangkumhang,  Adjima Assawapitaksakul,  Wanna Chetruengchai,  Keswadee Lapphra,  Athiphat Khuninthong,  Pattarapong Makarawate,  Kanya Suphapeetiporn,  Surakameth Mahasirimongkol,  Nusara Satproedprai,  Thantrira Porntaveetus,  Prapaporn Pisitkun,  Verayuth Praphanphoj,  Piranit Kantaputra,  Wichittra Tassaneeyakul,  Sissades Tongsima, 
The Thai reference exome (T-REx) variant database

2020

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EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

Muhammad Umair,  Mariam Ballow,  Abdulaziz Asiri,  Yusra Alyafee,  Abeer al Tuwaijri,  Kheloud M. Alhamoudi,  Taghrid Aloraini,  Marwa Abdelhakim,  Azza Thamer Althagafi,  Senay Kafkas,  Lamia Alsubaie,  Muhammad Talal Alrifai,  Robert Hoehndorf,  Ahmed Alfares,  Majid Alfadhel, 
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

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Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia

Lorenz Rieck,  Frieda Bardey,  Thomas Grenkowitz,  Lars Bertram,  Johannes Helmuth,  Claudia Mischung,  Joachim Spranger,  Elisabeth Steinhagen-Thiessen,  Thomas Bobbert,  Ursula Kassner,  Ilja Demuth, 
Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia

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Prenatal exome sequencing in fetuses with congenital heart defects

Ru Li,  Fang Fu,  Qiuxia Yu,  Dan Wang,  Xiangyi Jing,  Yongling Zhang,  Fucheng Li,  Fatao Li,  Jin Han,  Min Pan,  Li Zhen,  Dongzhi Li,  Can Liao, 
Prenatal exome sequencing in fetuses with congenital heart defects

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High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3

Aurélie Gouronc,  Vincent Zilliox,  Marie-Line Jacquemont,  Françoise Darcel,  Anne-Sophie Leuvrey,  Elsa Nourisson,  Manuela Antin,  Jean-Luc Alessandri,  Bérénice Doray,  Paul Gueguen,  Frédérique Payet,  Hanitra Randrianaivo,  Corinne Stoetzel,  Sophie Scheidecker,  Hugues Flodrops,  Hélène Dollfus,  Jean Muller, 
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3