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Molecular and clinical spectra of FBXL4 deficiency

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Molecular and clinical spectra of FBXL4 deficiency. / El-Hattab, Ayman W; Dai, Hongzheng; Almannai, Mohammed; Wang, Julia; Faqeih, Eissa A; Al Asmari, Ali; Saleh, Mohammed A M; Elamin, Mohammed A O; Alfadhel, Majid; Alkuraya, Fowzan S; Hashem, Mais; Aldosary, Mazhor S; Almass, Rawan; Almutairi, Faten B; Alsagob, Maysoon; Al-Owain, Mohammed; Al-Sharfa, Shirin; Al-Hassnan, Zuhair N; Rahbeeni, Zuhair; Al-Muhaizea, Mohammed A; Makhseed, Nawal; Foskett, Gretchen K; Stevenson, David A; Gomez-Ospina, Natalia; Lee, Chung; Boles, Richard G; Schrier Vergano, Samantha A; Wortmann, Saskia B; Sperl, Wolfgang; Opladen, Thomas; Hoffmann, Georg F; Hempel, Maja; Prokisch, Holger; Alhaddad, Bader; Mayr, Johannes A; Chan, Wenyaw; Kaya, Namik; Wong, Lee-Jun C.

in: HUM MUTAT, Jahrgang 38, Nr. 12, 12.2017, S. 1649-1659.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

El-Hattab, AW, Dai, H, Almannai, M, Wang, J, Faqeih, EA, Al Asmari, A, Saleh, MAM, Elamin, MAO, Alfadhel, M, Alkuraya, FS, Hashem, M, Aldosary, MS, Almass, R, Almutairi, FB, Alsagob, M, Al-Owain, M, Al-Sharfa, S, Al-Hassnan, ZN, Rahbeeni, Z, Al-Muhaizea, MA, Makhseed, N, Foskett, GK, Stevenson, DA, Gomez-Ospina, N, Lee, C, Boles, RG, Schrier Vergano, SA, Wortmann, SB, Sperl, W, Opladen, T, Hoffmann, GF, Hempel, M, Prokisch, H, Alhaddad, B, Mayr, JA, Chan, W, Kaya, N & Wong, L-JC 2017, 'Molecular and clinical spectra of FBXL4 deficiency', HUM MUTAT, Jg. 38, Nr. 12, S. 1649-1659. https://doi.org/10.1002/humu.23341

APA

El-Hattab, A. W., Dai, H., Almannai, M., Wang, J., Faqeih, E. A., Al Asmari, A., Saleh, M. A. M., Elamin, M. A. O., Alfadhel, M., Alkuraya, F. S., Hashem, M., Aldosary, M. S., Almass, R., Almutairi, F. B., Alsagob, M., Al-Owain, M., Al-Sharfa, S., Al-Hassnan, Z. N., Rahbeeni, Z., ... Wong, L-J. C. (2017). Molecular and clinical spectra of FBXL4 deficiency. HUM MUTAT, 38(12), 1649-1659. https://doi.org/10.1002/humu.23341

Vancouver

El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A et al. Molecular and clinical spectra of FBXL4 deficiency. HUM MUTAT. 2017 Dez;38(12):1649-1659. https://doi.org/10.1002/humu.23341

Bibtex

@article{f6539ba8dc664496bca8c41656d2086a,
title = "Molecular and clinical spectra of FBXL4 deficiency",
abstract = "F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that it plays significant roles in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) maintenance, and mitochondrial dynamics. Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease characterized by lactic acidemia, developmental delay, and hypotonia. Other features are feeding difficulties, growth failure, microcephaly, hyperammonemia, seizures, hypertrophic cardiomyopathy, elevated liver transaminases, recurrent infections, variable distinctive facial features, white matter abnormalities and cerebral atrophy found in neuroimaging, combined deficiencies of multiple electron transport complexes, and mtDNA depletion. Since its initial description in 2013, 36 different pathogenic variants in FBXL4 were reported in 50 affected individuals. In this report, we present 37 additional affected individuals and 11 previously unreported pathogenic variants. We summarize the clinical features of all 87 individuals with FBXL4-related mtDNA maintenance defect, review FBXL4 structure and function, map the 47 pathogenic variants onto the gene structure to assess the variants distribution, and investigate the genotype-phenotype correlation. Finally, we provide future directions to understand the disease mechanism and identify treatment strategies.",
keywords = "Journal Article",
author = "El-Hattab, {Ayman W} and Hongzheng Dai and Mohammed Almannai and Julia Wang and Faqeih, {Eissa A} and {Al Asmari}, Ali and Saleh, {Mohammed A M} and Elamin, {Mohammed A O} and Majid Alfadhel and Alkuraya, {Fowzan S} and Mais Hashem and Aldosary, {Mazhor S} and Rawan Almass and Almutairi, {Faten B} and Maysoon Alsagob and Mohammed Al-Owain and Shirin Al-Sharfa and Al-Hassnan, {Zuhair N} and Zuhair Rahbeeni and Al-Muhaizea, {Mohammed A} and Nawal Makhseed and Foskett, {Gretchen K} and Stevenson, {David A} and Natalia Gomez-Ospina and Chung Lee and Boles, {Richard G} and {Schrier Vergano}, {Samantha A} and Wortmann, {Saskia B} and Wolfgang Sperl and Thomas Opladen and Hoffmann, {Georg F} and Maja Hempel and Holger Prokisch and Bader Alhaddad and Mayr, {Johannes A} and Wenyaw Chan and Namik Kaya and Wong, {Lee-Jun C}",
note = "{\textcopyright} 2017 Wiley Periodicals, Inc.",
year = "2017",
month = dec,
doi = "10.1002/humu.23341",
language = "English",
volume = "38",
pages = "1649--1659",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "12",

}

RIS

TY - JOUR

T1 - Molecular and clinical spectra of FBXL4 deficiency

AU - El-Hattab, Ayman W

AU - Dai, Hongzheng

AU - Almannai, Mohammed

AU - Wang, Julia

AU - Faqeih, Eissa A

AU - Al Asmari, Ali

AU - Saleh, Mohammed A M

AU - Elamin, Mohammed A O

AU - Alfadhel, Majid

AU - Alkuraya, Fowzan S

AU - Hashem, Mais

AU - Aldosary, Mazhor S

AU - Almass, Rawan

AU - Almutairi, Faten B

AU - Alsagob, Maysoon

AU - Al-Owain, Mohammed

AU - Al-Sharfa, Shirin

AU - Al-Hassnan, Zuhair N

AU - Rahbeeni, Zuhair

AU - Al-Muhaizea, Mohammed A

AU - Makhseed, Nawal

AU - Foskett, Gretchen K

AU - Stevenson, David A

AU - Gomez-Ospina, Natalia

AU - Lee, Chung

AU - Boles, Richard G

AU - Schrier Vergano, Samantha A

AU - Wortmann, Saskia B

AU - Sperl, Wolfgang

AU - Opladen, Thomas

AU - Hoffmann, Georg F

AU - Hempel, Maja

AU - Prokisch, Holger

AU - Alhaddad, Bader

AU - Mayr, Johannes A

AU - Chan, Wenyaw

AU - Kaya, Namik

AU - Wong, Lee-Jun C

N1 - © 2017 Wiley Periodicals, Inc.

PY - 2017/12

Y1 - 2017/12

N2 - F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that it plays significant roles in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) maintenance, and mitochondrial dynamics. Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease characterized by lactic acidemia, developmental delay, and hypotonia. Other features are feeding difficulties, growth failure, microcephaly, hyperammonemia, seizures, hypertrophic cardiomyopathy, elevated liver transaminases, recurrent infections, variable distinctive facial features, white matter abnormalities and cerebral atrophy found in neuroimaging, combined deficiencies of multiple electron transport complexes, and mtDNA depletion. Since its initial description in 2013, 36 different pathogenic variants in FBXL4 were reported in 50 affected individuals. In this report, we present 37 additional affected individuals and 11 previously unreported pathogenic variants. We summarize the clinical features of all 87 individuals with FBXL4-related mtDNA maintenance defect, review FBXL4 structure and function, map the 47 pathogenic variants onto the gene structure to assess the variants distribution, and investigate the genotype-phenotype correlation. Finally, we provide future directions to understand the disease mechanism and identify treatment strategies.

AB - F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that it plays significant roles in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) maintenance, and mitochondrial dynamics. Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease characterized by lactic acidemia, developmental delay, and hypotonia. Other features are feeding difficulties, growth failure, microcephaly, hyperammonemia, seizures, hypertrophic cardiomyopathy, elevated liver transaminases, recurrent infections, variable distinctive facial features, white matter abnormalities and cerebral atrophy found in neuroimaging, combined deficiencies of multiple electron transport complexes, and mtDNA depletion. Since its initial description in 2013, 36 different pathogenic variants in FBXL4 were reported in 50 affected individuals. In this report, we present 37 additional affected individuals and 11 previously unreported pathogenic variants. We summarize the clinical features of all 87 individuals with FBXL4-related mtDNA maintenance defect, review FBXL4 structure and function, map the 47 pathogenic variants onto the gene structure to assess the variants distribution, and investigate the genotype-phenotype correlation. Finally, we provide future directions to understand the disease mechanism and identify treatment strategies.

KW - Journal Article

U2 - 10.1002/humu.23341

DO - 10.1002/humu.23341

M3 - SCORING: Journal article

C2 - 28940506

VL - 38

SP - 1649

EP - 1659

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 12

ER -