Koolen-de Vries syndrome (KdVS, MIM#610443) is a rare malformation condition mainly characterized by cognitive impairment in association with craniofacial and visceral anomalies. The core phenotype is caused by mutations in the chromatin remodeler KANSL1 (MSL1V1, KIAA1267, KAT8 Regulatory NSL Complex Subunit 1, MIM#612452), which maps to 17q21.31 critical genomic region (Koolen et al., Nature Genetics 2012;44:639-641). Considering its molecular basis, KdVS is included in the group of Developmental Disorders of Chromatin Remodeling (DDCRs), also termed chromatinopathies. We describe the first KdVS patient of Southern India ethnicity, harboring the typical de novo 17q21.31 microdeletion, including KANSL1. Observed facial features and congenital anomalies are in line with the already reported KdVS phenotype, suggesting that phenotypic features are consistent across different ethnicities.

Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry / Pascolini, G; Gaudioso, F; Fadda, Mt; Laino, L; Ferraris, A;  , ; Grammatico, P.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4833. - (2020). [10.1002/ajmg.a.62006]

Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry

Gaudioso F;Fadda MT;Laino L;Grammatico P.
Ultimo
2020

Abstract

Koolen-de Vries syndrome (KdVS, MIM#610443) is a rare malformation condition mainly characterized by cognitive impairment in association with craniofacial and visceral anomalies. The core phenotype is caused by mutations in the chromatin remodeler KANSL1 (MSL1V1, KIAA1267, KAT8 Regulatory NSL Complex Subunit 1, MIM#612452), which maps to 17q21.31 critical genomic region (Koolen et al., Nature Genetics 2012;44:639-641). Considering its molecular basis, KdVS is included in the group of Developmental Disorders of Chromatin Remodeling (DDCRs), also termed chromatinopathies. We describe the first KdVS patient of Southern India ethnicity, harboring the typical de novo 17q21.31 microdeletion, including KANSL1. Observed facial features and congenital anomalies are in line with the already reported KdVS phenotype, suggesting that phenotypic features are consistent across different ethnicities.
2020
Indian ethnicity; KANSL1; Koolen-de Vries syndrome (KdVS); developmental disorders of chromatin remodeling (DDCRs); intellectual disability (ID).
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Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry / Pascolini, G; Gaudioso, F; Fadda, Mt; Laino, L; Ferraris, A;  , ; Grammatico, P.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4833. - (2020). [10.1002/ajmg.a.62006]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1473686
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