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Case Reports
. 2020 Nov;182(11):2694-2698.
doi: 10.1002/ajmg.a.61807. Epub 2020 Sep 8.

Tremor is a major feature of 9p13 deletion syndrome

Susana Isabel Ferreira  1 , Giacomo Cinnirella  2 , Lina Ramos  3 , Antonio Suppa  4   5 , Luís Miguel Pires  1 , Anna Maria Nardone  6 , Letizia Camerota  2 , Silvia Lanciotti  2 , Cinzia Galasso  7 , Fernando De Maio  8 , Joana Barbosa de Melo  1   9   10 , Isabel Marques Carreira  1   9   10 , Francesco Brancati  11   12
Affiliations
Case Reports

Tremor is a major feature of 9p13 deletion syndrome

Susana Isabel Ferreira et al. Am J Med Genet A. 2020 Nov.

Abstract

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.

Keywords: 9p13 deletion syndrome; NPR2; myoclonus; tremor.

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References

REFERENCES

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