Missense variants in 22 males with intellectual disability

We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, or Ohdo syndrome....

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Detalles Bibliográficos
Autores: Maia, Nuno|||0000-0003-3274-2474, Ibarluzea, Nekane|||0000-0003-0951-1686, Misra-Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski-Filppula, Riikka, Guitart, Maria|||0000-0003-2957-7404, Gabau, Elisabeth|||0000-0001-8120-7393, Lehman, April, Hickey, Scott|||0000-0001-6098-2008, Mori, Mari|||0000-0001-6425-7137, Terhal, Paulien|||0000-0002-4417-4307, Valenzuela, Irene|||0000-0003-2350-6058, Lasa-Aranzasti, Amaia|||0000-0002-9136-5106, Cueto-González, Anna Mª|||0000-0001-7694-6124, Chhouk, Brian H., Yeh, Rebecca C., Neil, Jennifer E., Abu-Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W., Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, van Bokhoven, Hans|||0000-0002-2153-9254, Jorge, Paula, van Hagen, Johanna M., de Brouwer, Arjan P. M.|||0000-0002-2131-0484
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:281602
Acceso en línea:https://ddd.uab.cat/record/281602
https://dx.doi.org/urn:doi:10.1002/ajmg.a.63004
Access Level:acceso abierto
Palabra clave:Intellectual disability
MED12
Phenotype
Genotype
Descripción
Sumario:We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, or Ohdo syndrome. The identified variants were randomly distributed throughout the gene (p = 0.993, χ 2 test), but mostly outside the functional domains (p = 0.004; χ 2 test). Statistical analyses did not show a correlation between the MED12 -related phenotypes and the locations of the variants (p = 0.295; Pearson correlation), nor the protein domain involved (p = 0.422; Pearson correlation). In conclusion, establishing a genotype-phenotype correlation in MED12 -related diseases remains challenging. Therefore, we think that patients with a causative MED12 variant are currently underdiagnosed due to the broad patients' clinical presentations.

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