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Tremor is a major feature of 9p13 deletion syndrome
Author(s) -
Ferreira Susana Isabel,
Cinnirella Giacomo,
Ramos Lina,
Suppa Antonio,
Pires Luís Miguel,
Nardone Anna Maria,
Camerota Letizia,
Lanciotti Silvia,
Galasso Cinzia,
De Maio Fernando,
Melo Joana Barbosa,
Carreira Isabel Marques,
Brancati Francesco
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61807
Subject(s) - craniofacial , phenotype , homogeneous , intellectual disability , genetics , feature (linguistics) , biology , chromosome , gene , linguistics , philosophy , physics , thermodynamics
Proximal interstitial deletions of chromosome 9p13 have been described only in a few patients with developmental delay, moderate intellectual disability, craniofacial dysmorphism, short stature, genital anomalies, and precocious puberty. To corroborate and expand these findings, we report on two novel syndromic male patients with 9p13 deletions suffering from a similar form of tremor and compare them with literature data. Despite genomic variability in deletion sizes, all patients displayed homogeneous dysmorphism and clinical manifestations, including very invalidating tremor. Furthermore, we outlined a region of around 2 Mb shared in common by all patients with nearly 70 genes, among which NPR2 might have a role in the phenotype. These data delineate interstitial 9p13 deletion syndrome with tremor as a major feature.