Portal de investigación
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
Fecha de publicación:
Fecha Ahead of Print:
Autores de I3PT
Participantes ajenos a I3PT
- Maia, N
- Ibarluzea, N
- Misra-Isrie, M
- Koboldt, DC
- Marques, I
- Soares, G
- Santos, R
- Marcelis, CLM
- Keski-Filppula, R
- Lehman, A
- Hickey, S
- Mori, M
- Terhal, P
- Valenzuela, I
- Lasa-Aranzasti, A
- Cueto-Gonzalez, AM
- Chhouk, BH
- Yeh, RC
- Neil, JE
- Abu-Libde, B
- Kleefstra, T
- Elting, MW
- Csaszar, A
- Karteszi, J
- Bessenyei, B
- van Bokhoven, H
- Jorge, P
- van Hagen, JM
- de Brouwer, APM
Grupos de Investigación
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, chi(2) test), but mostly outside the functional domains (p = 0.004; chi(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.
Datos de la publicación
- ISSN/ISSNe:
- 1552-4825, 1552-4833
- Tipo:
- Article
- Páginas:
- 135-143
- DOI:
- 10.1002/ajmg.a.63004
- PubMed:
- 36271811
- Enlace a otro recurso:
- www.scopus.com
AMERICAN JOURNAL OF MEDICAL GENETICS PART A WILEY
Citas Recibidas en Web of Science: 2
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- No hay documentos
Filiaciones
Keywords
- intellectual disability; MED12; phenotype; genotype