A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Renato Borgatti, Simone Gana, Francesca Marazzi, Federica Morelli, Silvia Nicolosi, Davide Politano, Elisa Rognone, Romina Romaniello, Ilaria Scognamillo, Sabrina Signorini, Enza Maria Valente

Ngôn ngữ: eng

Ký hiệu phân loại: 133.594 Types or schools of astrology originating in or associated with a

Thông tin xuất bản: Netherlands : Brain & development , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 726772

BACKGROUND: ZMYM2 heterozygous pathogenic variants cause an ultra-rare disease characterized by a broad clinical phenotype. This condition has been named neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC, MIM#619522). Associated anomalies include congenital abnormalities of the kidney and urinary tract (CAKUT), non-specific facial, cardiac, and skeletal abnormalities, along with a variety of neurodevelopmental disorders. Other abnormalities reported in some patients include infantile hypotonia, poor growth, microcephaly, hypospadias, and motor stereotypies. Recently, one patient with cerebral palsy embedded in a complex phenotype was reported to carry a pathogenic ZMYM2 variant. CASE PRESENTATION: This study presents the case of a 13-year-old girl carrying a de novo ZMYM2 heterozygous pathogenic variant. The patient displayed a Rett-like phenotype, associated with non-specific features such as precocious puberty, short stature, facial dysmorphisms, and spastic diplegia. CONCLUSIONS: This case expands the known clinical phenotype associated with ZMYM2 pathogenic variants, suggesting for the first time a possible link to Rett-like syndromes.
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH