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Article

Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.

European journal of human genetics : EJHG - 1 Feb 2023

Rodari Giulia, Villa Roberta, Porro Matteo, Gangi Silvana, Iascone Maria, Elli Francesca, Giacchetti Federico, Profka Eriselda, Collini Valentina, Dall'Antonia Alberta, Arosio Maura, Mantovani Giovanna, Bedeschi Maria Francesca, Giavoli Claudia

Abstract excerpt

Protein arginine methyltransferase 7 (PRMT7) pathogenetic variants have been associated with the human disorder of Short Stature, Brachydactyly, Intellectual Developmental Disability and Seizures syndrome (SBIDDS). Only 15 cases have been described in the literature. Here we report two female dizygotic twins with novel compound heterozygous deleterious variants of PRMT7 and describe the associated endocrine...

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Identifiers

PMID: 36348013
DOI: 10.1038/s41431-022-01220-9
PMCID: PMC9905056

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