TY - JOUR
T1 - The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981∗)
AU - Dawidziuk, Mateusz
AU - Kutkowska-Kazmierczak, Anna
AU - Gawliński, Paweł
AU - Wiszniewski, Wojciech
AU - Gos, Monika
AU - Stawiński, Piotr
AU - Rydzanicz, Małgorzata
AU - Kosińska, Joanna
AU - Własienko, Paweł
AU - Malinowska Kordowska, Olga
AU - Bartnik-Głaska, Magdalena
AU - Bernaciak, Joanna
AU - Szczałuba, Krzysztof
AU - Bekiesińska-Figatowska, Monika
AU - Płoski, Rafał
AU - Bal, Jerzy
AU - Olimpia Rzońca-Niewczas, Sylwia
N1 - Publisher Copyright:
© 2020 Mateusz Dawidziuk et al., published by Sciendo.
PY - 2021/4/30
Y1 - 2021/4/30
N2 - The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent causes of syndromic intellectual disability. In this work, we report a patient with a novel de novo likely pathogenic variant c.5941C>T, p.(Gln1981∗) in the MED13L gene with severe intellectual disability and facial dysmorphism. Uncommon findings like lack of speech, strabismus and self-destructive behaviour present in our patient allowed us to further define the phenotypic spectrum of mental retardation and distinctive facial features with or without cardiac defects syndrome.
AB - The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent causes of syndromic intellectual disability. In this work, we report a patient with a novel de novo likely pathogenic variant c.5941C>T, p.(Gln1981∗) in the MED13L gene with severe intellectual disability and facial dysmorphism. Uncommon findings like lack of speech, strabismus and self-destructive behaviour present in our patient allowed us to further define the phenotypic spectrum of mental retardation and distinctive facial features with or without cardiac defects syndrome.
KW - haploinsufficiency
KW - intellectual disability
KW - loss-of-function mutation
KW - MED13L
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U2 - 10.34763/jmotherandchild.20202403.2021.d-20-00003
DO - 10.34763/jmotherandchild.20202403.2021.d-20-00003
M3 - Article
C2 - 33930262
AN - SCOPUS:85113795145
SN - 2719-6488
VL - 24
SP - 32
EP - 35
JO - Journal of mother and child
JF - Journal of mother and child
IS - 3
ER -