Article
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2021
Iqbal Maria, Maroofian Reza, Çavdarlı Büşranur, Riccardi Florence, Field Michael, Banka Siddharth, Bubshait Dalal K, Li Yun, Hertecant Jozef, Baig Shahid Mahmood, Dyment David, Efthymiou Stephanie, Abdullah Uzma, Makhdoom Ehtisham Ul Haq, Ali Zafar, Scherf de Almeida Tobias, Molinari Florence, Mignon-Ravix Cécile, Chabrol Brigitte, Antony Jayne, Ades Lesley, Pagnamenta Alistair T, Jackson Adam, Douzgou Sofia, Beetz Christian, Karageorgou Vasiliki, Vona Barbara, Rad Aboulfazl, Baig Jamshaid Mahmood, Sultan Tipu, Alvi Javeria Raza, Maqbool Shazia, Rahman Fatima, Toosi Mehran Beiraghi, Ashrafzadeh Farah, Imannezhad Shima, Karimiani Ehsan Ghayoor, Sarwar Yasra, Khan Sheraz, Jameel Muhammad, Noegel Angelika A, Budde Birgit, Altmüller Janine, Motameny Susanne, Höhne Wolfgang, Houlden Henry, Nürnberg Peter, Wollnik Bernd, Villard Laurent, Alkuraya Fowzan Sami, Osmond Matthew, Hussain Muhammad Sajid, Yigit Gökhan
Abstract excerpt
PURPOSE: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition. METHODS: We performed a detailed clinical characterization of 19 individuals from nine unrelated, consanguineous families with a neurodevelopmental disorder. We used genome/exome sequencing approaches, linkage and cosegregation...
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