Article
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2025
Rawlins Lettie E, Maroofian Reza, Cannon Stuart J, Daana Muhannad, Zamani Mina, Ghani Shamsul, Leslie Joseph S, Ubeyratna Nishanka, Khan Nasar, Khan Hamid, Scardamaglia Annarita, Cloarec Robin, Khan Shujaat Ali, Umair Muhammad, Sadeghian Saeid, Galehdari Hamid, Al-Maawali Almundher, Al-Kindi Adila, Azizimalamiri Reza, Shariati Gholamreza, Ahmad Faraz, Al-Futaisi Amna, Rodriguez Cruz Pedro M, Salazar-Villacorta Ainara, Ndiaye Moustapha, Diop Amadou G, Sedaghat Alireza, Saberi Alihossein, Hamid Mohammad, Zaki Maha S, Vona Barbara, Owrang Daniel, Alhashem Abdullah M, Obeid Makram, Khan Amjad, Beydoun Ahmad, Najjar Marwan, Tajsharghi Homa, Zifarelli Giovanni, Bauer Peter, Hakami Wejdan S, Al Hashem Amal M, Boustany Rose-Mary N, Burglen Lydie, Alavi Shahryar, Gunning Adam C, Owens Martina, Karimiani Ehsan G, Gleeson Joseph G, Milh Mathieu, Salah Somaya, Khan Jahangir, Haucke Volker, Wright Caroline F, McGavin Lucy, Elpeleg Orly, Shabbir Muhammad I, Houlden Henry, Ebner Michael, Baple Emma L, Crosby Andrew H
Abstract excerpt
PURPOSE: Biallelic INPP4A variants have recently been associated with severe neurodevelopmental disease in single-case reports. Here, we expand and elucidate the clinical-genetic spectrum and provide a pathomechanistic explanation for genotype-phenotype correlations. METHODS: Clinical and genomic investigations of 30 individuals were undertaken alongside molecular and in silico modelling and translation...
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