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Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Altassan, Ruqaiah; AlQudairy, Hanan; AlJebreen, Sarah; AlMuhaizea, Mohammed; Al-Hindi, Hindi; Pena-Guerra, Karla A; Ghebeh, Hazem; Almzroua, Amer; Albakheet, Albandary; AlDosary, Mazhor; Colak, Dilek; Arold, Stefan T; Kaya, Namik.
Afiliación
  • Altassan R; Department of Medical Genomics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
  • AlQudairy H; College of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.
  • AlJebreen S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
  • AlMuhaizea M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
  • Al-Hindi H; College of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.
  • Pena-Guerra KA; Center for Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
  • Ghebeh H; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
  • Almzroua A; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Kingdom of Saudi Arabia.
  • Albakheet A; Stem Cell and Tissue Re-Engineering Program Department, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
  • AlDosary M; Stem Cell and Tissue Re-Engineering Program Department, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
  • Colak D; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
  • Arold ST; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
  • Kaya N; Department of Molecular Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
Am J Med Genet A ; 194(4): e63498, 2024 04.
Article en En | MEDLINE | ID: mdl-38129970
ABSTRACT
Congenital muscular dystrophies are a group of progressive disorders with wide range of symptoms associated with diverse cellular mechanisms. Recently, biallelic variants in GGPS1 were linked to a distinct autosomal recessive form of muscular dystrophy associated with hearing loss and ovarian insufficiency. In this report, we present a case of a young patient with a homozygous variant in GGPS1. The patient presented with only proximal muscle weakness, and elevated liver transaminases with spared hearing function. The hepatic involvement in this patient caused by a novel deleterious variant in the gene extends the phenotypic and genotypic spectrum of GGPS1 related muscular dystrophy.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Insuficiencia Ovárica Primaria / Sordera / Dimetilaliltranstransferasa / Pérdida Auditiva / Distrofias Musculares Límite: Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Insuficiencia Ovárica Primaria / Sordera / Dimetilaliltranstransferasa / Pérdida Auditiva / Distrofias Musculares Límite: Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos