Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

doi:10.1016/j.gim.2022.09.007

Article

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2023

Loong Lucy, Tardivo Agostina, Knaus Alexej, Hashim Mona, Pagnamenta Alistair T, Alt Kerstin, Böhrer-Rabel Helena, Caro-Llopis Alfonso, Cole Trevor, Distelmaier Felix, Edery Patrick, Ferreira Carlos R, Jezela-Stanek Aleksandra, Kerr Bronwyn, Kluger Gerhard, Krawitz Peter M, Kuhn Marius, Lemke Johannes R, Lesca Gaetan, Lynch Sally Ann, Martinez Francisco, Maxton Caroline, Mierzewska Hanna, Monfort Sandra, Nicolai Joost, Orellana Carmen, Pal Deb K, Płoski Rafał, Quarrell Oliver W, Rosello Monica, Rydzanicz Małgorzata, Sabir Ataf, Śmigiel Robert, Stegmann Alexander P A, Stewart Helen, Stumpel Constance, Szczepanik Elżbieta, Tzschach Andreas, Wolfe Lynne, Taylor Jenny C, Murakami Yoshiko, Kinoshita Taroh, Bayat Allan, Kini Usha

Abstract excerpt

PURPOSE: Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. The full spectrum of clinical manifestations in relation to the genotypes is yet to be reported. METHODS: Genotype and phenotype data were collated and analyzed for 61 biallelic PIGN cases: 21 new and 40 previously published cases. Functional analysis...

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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Abstract excerpt

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