GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability

Hosseini Masoumeh; Fattahi Zohreh; Abedini Seyedeh Sedigheh; Hu Hao; Ropers Hans-H; Kalscheuer Vera M.; Najmabadi Hossein; Kahrizi Kimia

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GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability

机译：GPR126：一种新的候选基因，涉及常染色体隐性智力残疾

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Intellectual disability (ID), a genetically and clinically heterogeneous disorder, affects 1%-3% of the general population and is a major health problem, especially in developing countries and in populations with a high frequency of consanguineous marriage. Using whole exome sequencing, a homozygous missense variation (c.3264GC, p.W1088C) in a plausible disease causing gene, GPR126, was identified in two patients presenting with profound ID, severe speech impairment, microcephaly, seizures during infancy, and spasticity accompanied by cerebellar hypoplasia. The role of GPR126 in radial sorting and myelination in Schwann cells suggests a mechanism of pathogenesis for ID. Involvement of GPR126 in lethal congenital contracture syndrome 9 has been identified previously, but this is the first report of a plausible candidate gene, GPR126, in ID.

机译：智力残疾（ID），遗传和临床异质疾病影响了一般人群的1％-3％，是一个主要的健康问题，特别是在发展中国家和具有高频率婚姻频率的人口中。使用全exome测序，在引起基因的合理性疾病中，在婴儿期间的两个患者中鉴定了纯合物疾病的纯合物疾病（C.264g＆ c，p.w1088c），严重的讲话障碍，微头癫痫发作痉挛伴有小脑发育不全。 GPR126在施曼细胞径向分选和髓鞘中的作用表明ID发病机制。先前已经鉴定了GPR126在致死的先天性挛缩综合征9中的参与，但这是ID中合理候选基因GPR126的第一报告。

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来源
《American journal of medical genetics, Part A》 |2019年第1期|共7页
作者
Hosseini Masoumeh; Fattahi Zohreh; Abedini Seyedeh Sedigheh; Hu Hao; Ropers Hans-H; Kalscheuer Vera M.; Najmabadi Hossein; Kahrizi Kimia;
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作者单位

Univ Social Welf &

Rehabil Sci Genet Res Ctr Tehran 19857 Iran;

Univ Social Welf &

Rehabil Sci Genet Res Ctr Tehran 19857 Iran;

Univ Social Welf &

Rehabil Sci Genet Res Ctr Tehran 19857 Iran;

Max Planck Inst Mol Genet Dept Human Mol Genet Berlin Germany;

Max Planck Inst Mol Genet Dept Human Mol Genet Berlin Germany;

Max Planck Inst Mol Genet Dept Human Mol Genet Berlin Germany;

Univ Social Welf &

Rehabil Sci Genet Res Ctr Tehran 19857 Iran;

Univ Social Welf &

Rehabil Sci Genet Res Ctr Tehran 19857 Iran;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
cerebellar hypoplasia; GPR126; intellectual disability; microcephaly;

机译：小脑发育不全;GPR126;智力残疾;小头畸形;

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专利

1. GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability [J] . Hosseini Masoumeh, Fattahi Zohreh, Abedini Seyedeh Sedigheh, American journal of medical genetics, Part A . 2019,第1期

机译：GPR126：一种新的候选基因，涉及常染色体隐性智力残疾
2. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability [J] . Santos-Cortez Regie Lyn P., Khan Valeed, Khan Falak Sher, Human Genetics . 2018,第9期

机译：具有智力残疾常染色体隐性神经发育障碍的新型候选基因和变体
3. KIF16B KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome [J] . Alsahli Saud, Arold Stefan T., Alfares Ahmed, American journal of medical genetics, Part A . 2018,第7期

机译：KIF16B KIF16B是一种新型常血糖隐性智力残疾综合征的候选基因
4. Autosomal recessive hypercholesterolemia: genetics and clinical aspects [C] . Giovanni Zuliani, Renato Fellin European Symposium on Metabolism . 2003

机译：常染色体隐性高胆固醇血症：遗传学和临床方面
5. Autosomal Recessive Variants in Intellectual Disability and Autism Spectrum Disorder [D] . Harripaul, Ricardo Simeon. 2021

机译：智能疾病和自闭症谱系血型术中的常染色体隐性变体
6. Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration [O] . Zafar Iqbal, Lucia Püttmann, Luciana Musante, 2016

机译：AIMP1基因的错义变异涉及常染色体隐性智力障碍而无神经退行性变
7. Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration [O] . Iqbal, Z., Puttmann, L., Musante, L., 2016

机译：AIMP1基因的错义变异涉及常染色体隐性智力障碍而无神经退行性变

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability

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