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Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

Santos-Cortez, Regie Lyn P., Khan, Valeed, Khan, Falak Sher, Mughal, Zaib-un-Nisa, Chakchouk, Imen, Lee, Kwanghyuk, Rasheed, Memoona, Hamza, Rifat, Acharya, Anushree, Ullah, Ehsan, Saqib, Muhammad Arif Nadeem, Abbe, Izoduwa, Ali, Ghazanfar, Hassan, Muhammad Jawad, Khan, Saadullah, Azeem, Zahid, Ullah, Irfan, Bamshad, Michael J., Nickerson, Deborah A., Schrauwen, Isabelle, Ahmad, Wasim, Ansar, Muhammad, Leal, Suzanne M.·2018·Human Genetics
DOI 10.1007/s00439-018-1928-6PMC PMC6201268
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Crossref · 10.1007/s00439-018-1928-6

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  • 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 Santos‐Cortez et al, 2018

    The Discussion reports a GRAMD1B variant co-segregating with severe autosomal recessive intellectual disability in family MR60, while noting that a TBRG1 variant also co-segregates and either could underlie the condition. This supports a possible link with intellectual disability, but the paper does not address a GRAMD1B link with schizophrenia. (LLM, conf=0.86)

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  • 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 Santos‐Cortez et al, 2018

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Metadata

Authors
Santos-Cortez, R. L. P., Khan, V., Khan, F. S., Mughal, Z.-U.-N., Chakchouk, I., Lee, K., Rasheed, M., Hamza, R., Acharya, A., Ullah, E., Saqib, M. A. N., Abbe, I., Ali, G., Hassan, M. J., Khan, S., Azeem, Z., Ullah, I., Bamshad, M. J., Nickerson, D. A., Schrauwen, I., Ahmad, W., Ansar, M., & Leal, S. M.
Venue
Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2018-08-22
Volume
137
Issue
9
Pages
735-752
ISSN
  • 0340-6717
  • 1432-1203
DOI
10.1007/s00439-018-1928-6
PMC
PMC6201268
Cited by
55
References
13
Language
en
Licence
Funders
  • Higher Education Commision, Pakistan
  • National Human Genome Research Institute (HG006493)

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