Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy

Ruqaiah Altassan, Hanan AlQudairy, Sarah AlJebreen, Mohammed AlMuhaizea, Hindi Al-Hindi, Karla A. Pena-Guerra, Hazem Ghebeh, Amer Almzroua, Albandary Albakheet, Mazhor AlDosary, Dilek Colak, Stefan T. Arold, Namik Kaya*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
JournalAmerican Journal of Medical Genetics, Part A
DOIs
StateAccepted/In press - 2023

Bibliographical note

Publisher Copyright:
© 2023 Wiley Periodicals LLC.

Keywords

  • GGPS1
  • hepatopathy
  • muscular dystrophy
  • myopathy
  • normal hearing
  • ovarian insufficiency

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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