DOAJ Open Access 2022

GGPS1‐associated muscular dystrophy with and without hearing loss

Rauan Kaiyrzhanov Luke Perry Clarissa Rocca Maha S. Zaki Heba Hosny +19 lainnya

Abstrak

Abstract Ultra‐rare biallelic pathogenic variants in geranylgeranyl diphosphate synthase 1 (GGPS1) have recently been associated with muscular dystrophy/hearing loss/ovarian insufficiency syndrome. Here, we describe 11 affected individuals from four unpublished families with ultra‐rare missense variants in GGPS1 and provide follow‐up details from a previously reported family. Our cohort replicated most of the previously described clinical features of GGPS1 deficiency; however, hearing loss was present in only 46% of the individuals. This report consolidates the disease‐causing role of biallelic variants in GGPS1 and demonstrates that hearing loss and ovarian insufficiency might be a variable feature of the GGPS1‐associated muscular dystrophy.

Topik & Kata Kunci

Neurosciences. Biological psychiatry. Neuropsychiatry Neurology. Diseases of the nervous system

Penulis (24)

Rauan Kaiyrzhanov

Luke Perry

Clarissa Rocca

Maha S. Zaki

Heba Hosny

Cristiane Araujo Martins Moreno

Rahul Phadke

Irina Zaharieva

Clara Camelo Gontijo

Christian Beetz

Veronica Pini

Mojtaba Movahedinia

Edmar Zanoteli

Stephanie DiTroia

Sandrine Vuillaumier‐Barrot

Arnaud Isapof

Mohammad Yahya Vahidi Mehrjardi

Nasrin Ghasemi

Anna Sarkozy

Francesco Muntoni

Sandra Whalen

Barbara Vona

Henry Houlden

Reza Maroofian

Format Sitasi

APA MLA BibTeX

Kaiyrzhanov, R., Perry, L., Rocca, C., Zaki, M.S., Hosny, H., Moreno, C.A.M. et al. (2022). GGPS1‐associated muscular dystrophy with and without hearing loss. https://doi.org/10.1002/acn3.51633

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Informasi Jurnal

Tahun Terbit: 2022
Sumber Database: DOAJ
DOI: 10.1002/acn3.51633
Akses: Open Access ✓