American journal of medical genetics. Part A · 2022
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
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Maia Nuno, Ibarluzea Nekane, Misra-Isrie Mala, Koboldt Daniel C, Marques Isabel, Soares Gabriela, Santos Rosário, Marcelis Carlo L M, Keski-Filppula Riikka, Guitart Miriam, Gabau Vila Elisabeth, Lehman April, Hickey Scott, Mori Mari, Terhal Paulien, Valenzuela Irene, Lasa-Aranzasti Amaia, Cueto-González Anna Maria, 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, Jorge Paula, van Hagen Johanna M, de Brouwer Arjan P M
Аннотация
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, χ2 test), but mostly outside the functional domains (p = 0.004; χ2 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.