A founder variant expands the phenotype of WNT7B-related PDAC syndrome,Clinical Genetics

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A founder variant expands the phenotype of WNT7B-related PDAC syndrome
Clinical Genetics ( IF 3.5 ) Pub Date : 2024-02-28 , DOI: 10.1111/cge.14512
Lama AlAbdi _{1,

2} , Zuhair Rahbeeni ₃ , Sateesh Maddirevula ₂ , Rana Helaby ₂ , Firdous Abdulwahab ₂ , Arif O. Khan _{4,

5} , Lisa G. Riley _{6,

7} , Amal Alhashem _{8,

9,

10} , Nicolas Chassaing _{11,

12} , Robyn V. Jamieson _{13,

14} , Fowzan S. Alkuraya _{2,

8,

9}

Affiliation

Department of Zoology, Collage of Science King Saud University Riyadh Saudi Arabia
Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia
Department of Medical Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia
Eye Institute Cleveland Clinic Abu Dhabi Abu Dhabi United Arab Emirates
Department of Ophthalmology Cleveland Clinic Lerner College of Medicine of Case Western Reserve University Cleveland Ohio USA
Rare Diseases Functional Genomics, Kids Research The Children's Hospital at Westmead and The Children's Medical Research Institute Sydney New South Wales Australia
Specialty of Child & Adolescent Health, Sydney Medical School University of Sydney Sydney New South Wales Australia
Division of Clinical Genetic and Metabolic Medicine, Department of Pediatrics Prince Sultan Military Medical City Riyadh Saudi Arabia
College of Medicine Alfaisal University Riyadh Saudi Arabia
Department of Genetic and Metabolic, Sehha Virtual Hospital Ministry of Health Riyadh Saudi Arabia
Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif Purpan University Hospital Toulouse Midi‐Pyrénées France
Department of Medical Genetics Purpan University Hospital Toulouse Midi‐Pyrénées France
Eye Genetics Research Unit, Children's Medical Research Institute, University of Sydney; The Children's Hospital at Westmead Sydney Children's Hospitals Network; and Save Sight Institute Sydney New South Wales Australia
Specialty of Genomic Medicine, Faculty of Medicine and Health and Child and Adolescent Health University of Sydney Sydney New South Wales Australia

Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia, and Cardiac defects (PDAC) syndrome is a genetically heterogeneous multiple congenital malformation syndrome. Although pathogenic variants in RARB and STRA6 are established causes of PDAC, many PDAC cases remain unsolved at the molecular level. Recently, we proposed biallelic WNT7B variants as a novel etiology based on several families with typical features of PDAC syndrome albeit with variable expressivity. Here, we report three patients from two families that share a novel founder variant in WNT7B (c.739C > T; Arg247Trp). The phenotypic expression of this variant ranges from typical PDAC features to isolated genitourinary anomalies. Similar to previously reported PDAC-associated WNT7B variants, this variant was found to significantly impair WNT7B signaling activity further corroborating its proposed pathogenicity. This report adds further evidence to WNT7B-related PDAC and expands its variable expressivity.

更新日期：2024-03-01

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