Muscular dystrophy and myopathy_Paediatric
Gene: POGLUT1
in addition to adult-onset LGMD R21 (OMIM# 617232), biallelic variants in POGLUT1 gene have been reported in one patient with congenital muscular dystrophy and in two further patients with onset before 3 years of age. The presenting symptom were hypotonia with lower limb proximal weakness after gait acquisition, and further progression with mild weakness, wasting and contractures of the upper limbs, mild facial weakness, ptosis, and nasal voice. weakness was more severe and had faster progression compared to later onset patients. Muscle biopsies show evidence of α-dystroglycan hypoglycosylation. POGLUT1 activity is critical for the Notch signalling pathway, as JAG2.
Sources: LiteratureCreated: 7 Dec 2022, 9:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, MONDO:0020121, POGLUT1-related
Publications
Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Gene: poglut1 has been classified as Amber List (Moderate Evidence).
gene: POGLUT1 was added gene: POGLUT1 was added to Muscular dystrophy_Paediatric. Sources: Literature Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POGLUT1 were set to 33861953 Phenotypes for gene: POGLUT1 were set to Muscular dystrophy, MONDO:0020121, POGLUT1-related Review for gene: POGLUT1 was set to AMBER