The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
Abstract
Importance Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives To promote the identification of disease genes through confirmation of previously described genes and presentation of novel candidates and provide an overview of the diagnostic yield of exome sequencing in consanguineous families. Design, setting, and participants Autozygosity mapping in families and exome sequencing of index patients were performed in 152 consanguineous families (the parents descended from a same ancestor) with at least 1 offspring with intellectual disability (ID). The study was conducted from July 1, 2008, to June 30, 2015, and data analysis was conducted from July 1, 2015, to August 31, 2016. Results Of the 152 consanguineous families enrolled, 1 child (in 45 families [29.6%]) or multiple children (107 families [70.4%]) had ID; additional features were present in 140 of the families (92.1%). The mean (SD) age of the children was 10.3 (9.0) years, and 171 of 297 (57.6%) were male. In 109 families (71.7%), potentially protein-disrupting and clinically relevant variants were identified. Of these, a clear clinical genetic diagnosis was made in 56 families (36.8%) owing to 57 (likely) pathogenic variants in 50 genes already established in neurodevelopmental disorders (46 autosomal recessive, 2 X-linked, and 2 de novo) or in 7 previously proposed recessive candidates. In 5 of these families,…
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The R189W mutation in the GRAM domain of GRAMD1b is associated with intellectual disability in humans.
“Notably, a missense mutation in the GRAM domain of GRAMD1b (R189W) was identified in a consanguineous family with moderate intellectual disability, indicating the importance of the GRAM domain in GRAMD1b function (Reuter et al, 2017).”
From Molecular basis of accessible plasma membrane cholesterol recognition by the GRAM domain of GRAMD1b (2021) · cites this paper as Reuter et al, 2017
The R189W mutation in the GRAM domain of GRAMD1b specifically reduces the ability of the GRAM domain to bind cholesterol without affecting its affinity toward phosphatidylserine.
“We find that a mutation within the GRAM domain of GRAMD1b that is associated with intellectual disability in humans specifically impairs cholesterol sensing.”
From Molecular basis of accessible plasma membrane cholesterol recognition by the GRAM domain of GRAMD1b (2021) · cites this paper as Reuter et al, 2017
The R189W mutation was identified in a consanguineous family with intellectual disability.
“One of these mutations is R189W, which was identified in a consanguineous family with intellectual disability (Reuter et al, 2017).”
From Molecular basis of accessible plasma membrane cholesterol recognition by the GRAM domain of GRAMD1b (2021) · cites this paper as Reuter et al, 2017
Recent human genetic studies identified several mutations in GRAMD1b that are associated with intellectual disability.
“Recent human genetic studies identified several mutations in GRAMD1b that are associated with intellectual disability (Reuter et al, 2017; Santos‐Cortez et al, 2018).”
From Molecular basis of accessible plasma membrane cholesterol recognition by the GRAM domain of GRAMD1b (2021) · cites this paper as Reuter et al, 2017
Mounting evidence suggests a link between GRAMD1b and various neurodevelopmental disorders, including schizophrenia and intellectual disability.
“Mounting evidence suggests a link between GRAMD1b and various neurodevelopmental disorders, including schizophrenia and intellectual disability (Schizophrenia Working Group of the Psychiatric Genomics C, 2014; Reuter et al, 2017; Santos‐Cortez et al, 2018; Thyme et al, 2019).”
From Molecular basis of accessible plasma membrane cholesterol recognition by the GRAM domain of GRAMD1b (2021) · cites this paper as Reuter et al, 2017
Citations
Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
Diagnostic exome sequencing in persons with severe intellectual disability
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546
Genome sequencing identifies major causes of severe intellectual disability
Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125
Large-scale discovery of novel genetic causes of developmental disorders
Study, T. D. D. D. (2015) · Nature · doi:10.1038/nature14135 · Cited by 1,124
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965
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SNAREopathies: Diversity in Mechanisms and Symptoms
Verhage, M., & Sørensen, J. B. (2020) · Neuron · doi:10.1016/j.neuron.2020.05.036 · Cited by 121
Molecular basis of accessible plasma membrane cholesterol recognition by the GRAM domain of GRAMD1b
Ercan, B., Naito, T., Koh, D. H. Z., Dharmawan, D., & Saheki, Y. (2021) · The EMBO Journal · doi:10.15252/embj.2020106524 · Cited by 132
Gangfuß, A., Czech, A., Hentschel, A., Münchberg, U., Horvath, R., Töpf, A., O'Heir, E., Lochmüller, H., Stehling, F., Kiewert, C., et al. (2022) · The Journal of Pathology · doi:10.1002/path.5812 · Cited by 10
Metadata
- Authors
- Reuter, M. S., Tawamie, H., Buchert, R., Hosny Gebril, O., Froukh, T., Thiel, C., Uebe, S., Ekici, A. B., Krumbiegel, M., Zweier, C., Hoyer, J., Eberlein, K., Bauer, J., Scheller, U., Strom, T. M., Hoffjan, S., Abdelraouf, E. R., Meguid, N. A., Abboud, A., Al Khateeb, M. A., Fakher, M., Hamdan, S., Ismael, A., Muhammad, S., Abdallah, E., Sticht, H., Wieczorek, D., Reis, A., & Abou Jamra, R.
- Venue
- JAMA Psychiatry
- Publisher
- American Medical Association (AMA)
- Published
- 2017-03-01
- Volume
- 74
- Issue
- 3
- Pages
- 293
- ISSN
- 2168-622X
- Cited by
- 241
- References
- 5
- Language
- en
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