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.

Tremor is a major feature of 9p13 deletion syndrome / Ferreira, S. I.; Cinnirella, G.; Ramos, L.; Suppa, A.; Pires, L. M.; Nardone, A. M.; Camerota, L.; Lanciotti, S.; Galasso, C.; De Maio, F.; de Melo, J. B.; Carreira, I. M.; Brancati, F.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 182:11(2020), pp. 2694-2698. [10.1002/ajmg.a.61807]

Tremor is a major feature of 9p13 deletion syndrome

Cinnirella G.;Suppa A.;Camerota L.;Galasso C.;De Maio F.;Brancati F.
2020

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.
2020
9p13 deletion syndrome; myoclonus; NPR2; tremor
01 Pubblicazione su rivista::01a Articolo in rivista
Tremor is a major feature of 9p13 deletion syndrome / Ferreira, S. I.; Cinnirella, G.; Ramos, L.; Suppa, A.; Pires, L. M.; Nardone, A. M.; Camerota, L.; Lanciotti, S.; Galasso, C.; De Maio, F.; de Melo, J. B.; Carreira, I. M.; Brancati, F.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 182:11(2020), pp. 2694-2698. [10.1002/ajmg.a.61807]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1473401
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