A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant

This study confirms that heterozygous pathogenic variants of LHX4 can cause MPHD associated with a specific neuroradiological triad of abnormalities despite incomplete penetrance and variable phenotype. Moreover, the co-occurrence of the other two gene variants was debated. The <i>IGF1R</i> variant could explain the unusually poor response to growth hormone therapy in Family B, suggesting an oligogenic mechanism underlying the phenotype.

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Publication Details

Journal
Children
Published
2025-03-14
DOI
https://doi.org/10.3390/children12030364
Primary Topic
Growth Hormone and Insulin-like Growth Factors
Type
article
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article

A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant

Antonella Farina, Claudia Santoro, Nicola Improda, Francesca Del Vecchio Blanco et al.
Children
Growth Hormone and Insulin-like Growth Factors
article

A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant

Antonella Farina, Claudia Santoro, Nicola Improda, Francesca Del Vecchio Blanco, Vincenzo Nigro, Maria Rosaria Licenziati, Giulio Piluso, Mario Cirillo, Anna Grandone, Emanuele Miraglia del Giudice, Francesca Aiello, Annalaura Torella, Filomena Pascarella
article en

Abstract

This study confirms that heterozygous pathogenic variants of LHX4 can cause MPHD associated with a specific neuroradiological triad of abnormalities despite incomplete penetrance and variable phenotype. Moreover, the co-occurrence of the other two gene variants was debated. The <i>IGF1R</i> variant could explain the unusually poor response to growth hormone therapy in Family B, suggesting an oligogenic mechanism underlying the phenotype.

ChildrenVol. 12(3)
University of Campania "Luigi Vanvitelli" (IT), Santobono Children's Hospital (IT), Ospedale Sant'Anna (IT), Telethon Institute Of Genetics And Medicine (IT)
No poverty
Openalex Percentile: Top 94%
Growth Hormone and Insulin-like Growth Factors
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A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant — Antonella Farina, Claudia Santoro, et al. · Children (2025) | TGRS Research Map | TGRS