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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

ABSTRACT: 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.

SUBMITTER: Maia N 

PROVIDER: S-EPMC10092556 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature

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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Maia Nuno N   Ibarluzea Nekane N   Misra-Isrie Mala M   Koboldt Daniel C DC   Marques Isabel I   Soares Gabriela G   Santos Rosário R   Marcelis Carlo L M CLM   Keski-Filppula Riikka R   Guitart Miriam M   Gabau Vila Elisabeth E   Lehman April A   Hickey Scott S   Mori Mari M   Terhal Paulien P   Valenzuela Irene I   Lasa-Aranzasti Amaia A   Cueto-González Anna Maria AM   Chhouk Brian H BH   Yeh Rebecca C RC   Neil Jennifer E JE   Abu-Libde Bassam B   Kleefstra Tjitske T   Elting Mariet W MW   Császár Andrea A   Kárteszi Judit J   Bessenyei Beáta B   van Bokhoven Hans H   Jorge Paula P   van Hagen Johanna M JM   de Brouwer Arjan P M APM  

American journal of medical genetics. Part A 20221022 1

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<sup>2</sup> test), but mostly outside the functional domains (p = 0.004; χ<sup>2</sup> test). Statistical analyses  ...[more]

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