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10‐year‐old female with intragenic KANSL1 mutation, no KANSL1 ‐related intellectual disability, and preserved verbal intelligence
Author(s) -
Keen Colleen,
SamangoSprouse Carole,
Dubbs Holly,
Zackai Elaine H.
Publication year - 2017
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.38080
Subject(s) - haploinsufficiency , intellectual disability , facial dysmorphism , genetics , psychology , borderline intellectual functioning , mutation , phenotype , gene , biology , psychiatry , cognition
Koolen‐de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild‐to‐moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder. This case expands the mild end of the neurodevelopmental spectrum seen in children with de novo KANSL1 mutation and KdVS. © 2017 Wiley Periodicals, Inc.