Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Daniel G. Calame; Jovi Huixin Wong; Puravi Panda; Dat Tuan Nguyen; Nancy C.P. Leong; Riccardo Sangermano; Sohil G. Patankar; Mohamed S. Abdel-Hamid; Lama AlAbdi; Sylvia Safwat; Kyle P. Flannery; Zain Dardas; Jawid M. Fatih; Chaya Murali; Varun Kannan; Timothy E. Lotze; Isabella Herman; Farah Ammouri; Brianna Rezich; Stephanie Efthymiou; Shahryar Alavi; David Murphy; Zahra Firoozfar; Mahya Ebrahimi Nasab; Amir Bahreini; Majid Ghasemi; Nourelhoda A. Haridy; Hamid Reza Goldouzi; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Amber Begtrup; Houda Elloumi; Varunvenkat M. Srinivasan; Vykuntaraju K. Gowda; Haowei Du; Shalini N. Jhangiani; Zeynep Coban-Akdemir; Dana Marafi; Lance Rodan; Sedat Isikay; Jill A. Rosenfeld; Subhadra Ramanathan; Michael Staton; Kerby C. Oberg; Robin D. Clark; Catharina Wenman; Sam Loughlin; Ramy Saad; Tazeen Ashraf; Alison Male; Shereen Tadros; Reza Boostani; Ghada M.H. Abdel-Salam; Maha Zaki; Ali Mardi; Farzad Hashemi-Gorji; Ebtesam Abdalla; M. Chiara Manzini; Davut Pehlivan; Jennifer E. Posey; Richard A. Gibbs; Henry Houlden; Fowzan S. Alkuraya; Kinga Bujakowska; Reza Maroofian; James R. Lupski; Long N. Nguyen

doi:10.1016/j.gim.2024.101273

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Daniel G. Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C.P. Leong, Riccardo Sangermano, Sohil G. Patankar, Mohamed S. Abdel-Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P. Flannery, Zain Dardas, Jawid M. Fatih, Chaya Murali, Varun Kannan, Timothy E. Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie EfthymiouShahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A. Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Amber Begtrup, Houda Elloumi, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Haowei Du, Shalini N. Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance Rodan, Sedat Isikay, Jill A. Rosenfeld, Subhadra Ramanathan, Michael Staton, Kerby C. Oberg, Robin D. Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M.H. Abdel-Salam, Maha Zaki, Ali Mardi, Farzad Hashemi-Gorji, Ebtesam Abdalla, M. Chiara Manzini, Davut Pehlivan, Jennifer E. Posey, Richard A. Gibbs, Henry Houlden, Fowzan S. Alkuraya, Kinga Bujakowska, Reza Maroofian, James R. Lupski, Long N. Nguyen

Research output: Contribution to journal › Article › peer-review

Original language	English
Article number	101273
Journal	Genetics in Medicine
Volume	27
Issue number	1
DOIs	https://doi.org/10.1016/j.gim.2024.101273
State	Published - Jan 2025

ASJC Scopus Subject Areas

Genetics(clinical)

Keywords

Choline
Diamond-Blackfan anemia
FLVCR1
Neurodegeneration
Neurodevelopmental disorders

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Calame, D. G., Wong, J. H., Panda, P., Nguyen, D. T., Leong, N. C. P., Sangermano, R., Patankar, S. G., Abdel-Hamid, M. S., AlAbdi, L., Safwat, S., Flannery, K. P., Dardas, Z., Fatih, J. M., Murali, C., Kannan, V., Lotze, T. E., Herman, I., Ammouri, F., Rezich, B., ... Nguyen, L. N. (2025). Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genetics in Medicine, 27(1), Article 101273. https://doi.org/10.1016/j.gim.2024.101273

Calame, DG, Wong, JH, Panda, P, Nguyen, DT, Leong, NCP, Sangermano, R, Patankar, SG, Abdel-Hamid, MS, AlAbdi, L, Safwat, S, Flannery, KP, Dardas, Z, Fatih, JM, Murali, C, Kannan, V, Lotze, TE, Herman, I, Ammouri, F, Rezich, B, Efthymiou, S, Alavi, S, Murphy, D, Firoozfar, Z, Nasab, ME, Bahreini, A, Ghasemi, M, Haridy, NA, Goldouzi, HR, Eghbal, F, Karimiani, EG, Begtrup, A, Elloumi, H, Srinivasan, VM, Gowda, VK, Du, H, Jhangiani, SN, Coban-Akdemir, Z, Marafi, D, Rodan, L, Isikay, S, Rosenfeld, JA, Ramanathan, S , Staton, M , Oberg, KC , Clark, RD, Wenman, C, Loughlin, S, Saad, R, Ashraf, T, Male, A, Tadros, S, Boostani, R, Abdel-Salam, GMH, Zaki, M, Mardi, A, Hashemi-Gorji, F, Abdalla, E, Manzini, MC, Pehlivan, D, Posey, JE, Gibbs, RA, Houlden, H, Alkuraya, FS, Bujakowska, K, Maroofian, R, Lupski, JR & Nguyen, LN 2025, 'Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum', Genetics in Medicine, vol. 27, no. 1, 101273. https://doi.org/10.1016/j.gim.2024.101273

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title = "Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum",

keywords = "Choline, Diamond-Blackfan anemia, FLVCR1, Neurodegeneration, Neurodevelopmental disorders",

author = "Calame, {Daniel G.} and Wong, {Jovi Huixin} and Puravi Panda and Nguyen, {Dat Tuan} and Leong, {Nancy C.P.} and Riccardo Sangermano and Patankar, {Sohil G.} and Abdel-Hamid, {Mohamed S.} and Lama AlAbdi and Sylvia Safwat and Flannery, {Kyle P.} and Zain Dardas and Fatih, {Jawid M.} and Chaya Murali and Varun Kannan and Lotze, {Timothy E.} and Isabella Herman and Farah Ammouri and Brianna Rezich and Stephanie Efthymiou and Shahryar Alavi and David Murphy and Zahra Firoozfar and Nasab, {Mahya Ebrahimi} and Amir Bahreini and Majid Ghasemi and Haridy, {Nourelhoda A.} and Goldouzi, {Hamid Reza} and Fatemeh Eghbal and Karimiani, {Ehsan Ghayoor} and Amber Begtrup and Houda Elloumi and Srinivasan, {Varunvenkat M.} and Gowda, {Vykuntaraju K.} and Haowei Du and Jhangiani, {Shalini N.} and Zeynep Coban-Akdemir and Dana Marafi and Lance Rodan and Sedat Isikay and Rosenfeld, {Jill A.} and Subhadra Ramanathan and Michael Staton and Oberg, {Kerby C.} and Clark, {Robin D.} and Catharina Wenman and Sam Loughlin and Ramy Saad and Tazeen Ashraf and Alison Male and Shereen Tadros and Reza Boostani and Abdel-Salam, {Ghada M.H.} and Maha Zaki and Ali Mardi and Farzad Hashemi-Gorji and Ebtesam Abdalla and Manzini, {M. Chiara} and Davut Pehlivan and Posey, {Jennifer E.} and Gibbs, {Richard A.} and Henry Houlden and Alkuraya, {Fowzan S.} and Kinga Bujakowska and Reza Maroofian and Lupski, {James R.} and Nguyen, {Long N.}",

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year = "2025",

month = jan,

doi = "10.1016/j.gim.2024.101273",

language = "English",

volume = "27",

journal = "Genetics in Medicine",

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T1 - Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

AU - Calame, Daniel G.

AU - Wong, Jovi Huixin

AU - Panda, Puravi

AU - Nguyen, Dat Tuan

AU - Leong, Nancy C.P.

AU - Sangermano, Riccardo

AU - Patankar, Sohil G.

AU - Abdel-Hamid, Mohamed S.

AU - AlAbdi, Lama

AU - Safwat, Sylvia

AU - Flannery, Kyle P.

AU - Dardas, Zain

AU - Fatih, Jawid M.

AU - Murali, Chaya

AU - Kannan, Varun

AU - Lotze, Timothy E.

AU - Herman, Isabella

AU - Ammouri, Farah

AU - Rezich, Brianna

AU - Efthymiou, Stephanie

AU - Alavi, Shahryar

AU - Murphy, David

AU - Firoozfar, Zahra

AU - Nasab, Mahya Ebrahimi

AU - Bahreini, Amir

AU - Ghasemi, Majid

AU - Haridy, Nourelhoda A.

AU - Goldouzi, Hamid Reza

AU - Eghbal, Fatemeh

AU - Karimiani, Ehsan Ghayoor

AU - Begtrup, Amber

AU - Elloumi, Houda

AU - Srinivasan, Varunvenkat M.

AU - Gowda, Vykuntaraju K.

AU - Du, Haowei

AU - Jhangiani, Shalini N.

AU - Coban-Akdemir, Zeynep

AU - Marafi, Dana

AU - Rodan, Lance

AU - Isikay, Sedat

AU - Rosenfeld, Jill A.

AU - Ramanathan, Subhadra

AU - Staton, Michael

AU - Oberg, Kerby C.

AU - Clark, Robin D.

AU - Wenman, Catharina

AU - Loughlin, Sam

AU - Saad, Ramy

AU - Ashraf, Tazeen

AU - Male, Alison

AU - Tadros, Shereen

AU - Boostani, Reza

AU - Abdel-Salam, Ghada M.H.

AU - Zaki, Maha

AU - Mardi, Ali

AU - Hashemi-Gorji, Farzad

AU - Abdalla, Ebtesam

AU - Manzini, M. Chiara

AU - Pehlivan, Davut

AU - Posey, Jennifer E.

AU - Gibbs, Richard A.

AU - Houlden, Henry

AU - Alkuraya, Fowzan S.

AU - Bujakowska, Kinga

AU - Maroofian, Reza

AU - Lupski, James R.

AU - Nguyen, Long N.

PY - 2025/1

Y1 - 2025/1

KW - Choline

KW - Diamond-Blackfan anemia

KW - FLVCR1

KW - Neurodegeneration

KW - Neurodevelopmental disorders

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DO - 10.1016/j.gim.2024.101273

M3 - Article

C2 - 39306721

AN - SCOPUS:85210097084

SN - 1098-3600

VL - 27

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 1

M1 - 101273

ER -

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

ASJC Scopus Subject Areas

Keywords

Access to Document

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