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Article

An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency.

European journal of medical genetics - 1 Nov 2022

Sakka Rim, Abdelhedi Fatma, Sellami Hanen, Pichon Bruno, Lajmi Yosra, Mnif Mouna, Kebaili Sahbi, Derbel Rihab, Kamoun Hassen, Gdoura Radhouane, Delbaere Anne, Desir Julie, Abramowicz Marc, Vialard François, Dupont Jean-Michel, Ammar-Keskes Leila

Abstract excerpt

We report on the results of array-CGH and Whole exome sequencing (WES) studies carried out in a Tunisian family with 46,XX premature ovarian insufficiency (POI). This study has led to the identification of a familial Xp22.12 tandem duplication with a size of 559.4 kb, encompassing only three OMIM genes (RPS6KA3, SH3KBP1and EIF1AX), and a new heterozygous variant in SPIDR gene:...

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PMID: 36113757
DOI: 10.1016/j.ejmg.2022.104613

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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