LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

LHX2 encodes the LIM homeobox 2 transcription factor (LHX2), which is highly expressed in brain and well conserved across species, but it has not been clearly linked to neurodevelopmental disorders (NDDs) to date. Through international collaboration, we identified 19 individuals from 18 families wit...

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Veröffentlicht in:	Genetics in medicine 2023-07, Vol.25 (7), p.100839, Article 100839
Hauptverfasser:	Schmid, Cosima M., Gregor, Anne, Costain, Gregory, Morel, Chantal F., Massingham, Lauren, Schwab, Jennifer, Quélin, Chloé, Faoucher, Marie, Kaplan, Julie, Procopio, Rebecca, Saunders, Carol J., Cohen, Ana S.A., Lemire, Gabrielle, Sacharow, Stephanie, O’Donnell-Luria, Anne, Segal, Ranit Jaron, Kianmahd Shamshoni, Jessica, Schweitzer, Daniela, Ebrahimi-Fakhari, Darius, Monaghan, Kristin, Palculict, Timothy Blake, Napier, Melanie P., Tao, Alice, Isidor, Bertrand, Moradkhani, Kamran, Reis, André, Sticht, Heinrich, Chung, Wendy K., Zweier, Christiane
Format:	Artikel
Sprache:	eng
Schlagworte:	ASD Autism Spectrum Disorder Autism Spectrum Disorder - genetics Genetics Haploinsufficiency Haploinsufficiency - genetics Humans Intellectual Disability Intellectual Disability - complications Intellectual Disability - genetics LHX2 Life Sciences LIM-Homeodomain Proteins LIM-Homeodomain Proteins - genetics Microcephaly NDD Neurodevelopmental disorder Neurodevelopmental Disorders Neurodevelopmental Disorders - pathology Transcription Factors Transcription Factors - genetics
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