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
Documentos
- No hay documentos
Filiaciones
Keywords
- intellectual disability; MED12; phenotype; genotype
Campos de Estudio
Financiación
Cita
Maia N,Ibarluzea N,Misra M,Koboldt DC,Marques I,Soares G,Santos R,Marcelis CLM,Keski R,Guitart M et al. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am. J. Med. Genet. A. 2023. 191. (1):p. 135-143. DOI: 10.1002/ajmg.a.63004.
Maia N,Ibarluzea N,Misra M,Koboldt DC,Marques I,Soares G,Santos R,Marcelis CLM,Keski R,Guitart M,Vila EG,Lehman A,Hickey S,Mori M,Terhal P,Valenzuela I,Lasa A,Cueto AM,Chhouk BH,Yeh RC,Neil JE,Abu B,Kleefstra T,Elting MW,Csaszar A,Karteszi J,Bessenyei B,van H,Jorge P,van JM,de Brouwer A. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am. J. Med. Genet. A. 2023. 191. (1):p. 135-143. IF:1,700. (3).