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

doi:10.1002/ajmg.a.63498

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 journal › Article › peer-review

1 Scopus citations

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 language	English (US)
Article number	e63498
Journal	American Journal of Medical Genetics, Part A
Volume	194
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.63498
State	Accepted/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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Altassan, R., AlQudairy, H., AlJebreen, S., AlMuhaizea, M., Al-Hindi, H., Pena-Guerra, K. A., Ghebeh, H., Almzroua, A., Albakheet, A., AlDosary, M., Colak, D., Arold, S. T., & Kaya, N. (Accepted/In press). Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy. American Journal of Medical Genetics, Part A, 194(4), Article e63498. https://doi.org/10.1002/ajmg.a.63498

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title = "Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy",

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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doi = "10.1002/ajmg.a.63498",

language = "English (US)",

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journal = "American Journal of Medical Genetics, Part A",

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Altassan, R, AlQudairy, H, AlJebreen, S, AlMuhaizea, M, Al-Hindi, H, Pena-Guerra, KA, Ghebeh, H, Almzroua, A, Albakheet, A, AlDosary, M, Colak, D, Arold, ST & Kaya, N 2023, 'Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy', American Journal of Medical Genetics, Part A, vol. 194, no. 4, e63498. https://doi.org/10.1002/ajmg.a.63498

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AU - Altassan, Ruqaiah

AU - AlQudairy, Hanan

AU - AlJebreen, Sarah

AU - AlMuhaizea, Mohammed

AU - Al-Hindi, Hindi

AU - Pena-Guerra, Karla A.

AU - Ghebeh, Hazem

AU - Almzroua, Amer

AU - Albakheet, Albandary

AU - AlDosary, Mazhor

AU - Colak, Dilek

AU - Arold, Stefan T.

AU - Kaya, Namik

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AB - 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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KW - myopathy

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

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

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