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The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene
Author(s) -
Feldman Hailey R.,
Dlouhy Stephen R.,
Lah Melissa D.,
Payne Katelyn K.,
Weaver David D.
Publication year - 2019
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.60698
Subject(s) - short stature , hypertrichosis , medicine , genetics , mutation , gene , pediatrics , biology
Wiedemann–Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and intellectual disability. Congenital malformations of the cerebral, cardiac, renal, and optic structures have also been reported. Because the majority of reported individuals with this condition have been under age 20, the long‐term prognosis is not well defined. Here we report on two further unrelated individuals diagnosed with Wiedemann–Steiner syndrome, one of whom is in her third decade of life. In addition, both individuals have novel KMT2A mutations. The information provided below about the outcome in Wiedemann–Steiner syndrome is important for families of affected individuals.