Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.

doi:10.3390/ijms23169480

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Article

Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.

International journal of molecular sciences - 22 Aug 2022

Baladron Beatriz, Mielu Lidia M, López-Martín Estrella, Barrero Maria J, Lopez Lidia, Alvarado Jose I, Monzón Sara, Varona Sarai, Cuesta Isabel, Cazorla Rosario, Lara Julián, Iglesias Gemma, Román Enriqueta, Ros Purificación, Gomez-Mariano Gema, Cubillo Isabel, Miguel Esther Hernandez-San, Rivera Daniel, Alonso Javier, Bermejo-Sánchez Eva, Posada Manuel, Martínez-Delgado Beatriz

Abstract excerpt

Pathogenic hemizygous or heterozygous mutations in the IQSEC2 gene cause X-linked intellectual developmental disorder-1 (XLID1), characterized by a variable phenotype including developmental delay, intellectual disability, epilepsy, hypotonia, autism, microcephaly and stereotypies. It affects both males and females typically through loss of function in males and haploinsufficiency in heterozygous females. Females...

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Identifiers

PMID: 36012761
DOI: 10.3390/ijms23169480
PMCID: PMC9409358

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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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