Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
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22名智障男性的Med12变种：从非特异性症状到完全综合征。
DOI：
10.1002/ajmg.a.63004
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发表时间：
2023-01
影响因子：
2
通讯作者：
de Brouwer, Arjan P. M.
中科院分区：
文献类型：
--
作者：
Maia, Nuno;Ibarluzea, Nekane;Misra-Isrie, Mala;Koboldt, Daniel C.;Marques, Isabel;Soares, Gabriela;Santos, Rosario;Marcelis, Carlo L. M.;Keski-Filppula, Riikka;Guitart, Miriam;Vila, Elisabeth Gabau;Lehman, April;Hickey, Scott;Mori, Mari;Terhal, Paulien;Valenzuela, Irene;Lasa-Aranzasti, Amaia;Cueto-Gonzalez, Anna Maria;Chhouk, Brian H.;Yeh, Rebecca C.;Neil, Jennifer E.;Abu-Libde, Bassam;Kleefstra, Tjitske;Elting, Mariet W.;Csaszar, Andrea;Karteszi, Judit;Bessenyei, Beata;van Bokhoven, Hans;Jorge, Paula;van Hagen, Johanna M.;de Brouwer, Arjan P. M.
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.
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影响因子：
0.7
作者：
Bouazzi H;Lesca G;Trujillo C;Alwasiyah MK;Munnich A
通讯作者：
Munnich A
DOI：
10.3109/10409238.2015.1064854
发表时间：
2015
影响因子：
6.5
作者：
Clark AD;Oldenbroek M;Boyer TG
通讯作者：
Boyer TG
影响因子：
2.9
作者：
Strickler, SS;Gribenko, AV;Makhatadze, GI
通讯作者：
Makhatadze, GI
一种与非特异性X连锁智力残疾相关的新型Med12突变。
影响因子：
1.5
作者：
Yamamoto T;Shimojima K
通讯作者：
Shimojima K
神经退行性疾病的突变谱分析及其致病意义
影响因子：
5.6
作者：
Shen L;Ji HF
通讯作者：
Ji HF