Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.

Genes - 27 Sept 2022

Ghafoor Saima, Silveira Karina da Costa, Qamar Raheel, Azam Maleeha, Kannu Peter

Abstract excerpt

Mucopolysaccharidoses (MPS) type IVA is a lysosomal storage disease that mainly affects the skeletal system and is caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). The condition can mistakenly be diagnosed as a primary skeletal dysplasia such as spondylo-epiphyseal dysplasia, which shares many similar phenotypic features. Here, we utilised whole exome sequencing to make the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Consanguinity
Share to Exome
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mucopolysaccharidosis IV

Share to Mutation

Share to Pakistan

Source

Open in PubMed Open full text

Identifiers

PMID: 36292628
DOI: 10.3390/genes13101743
PMCID: PMC9602411

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.PMID 36292628Read ↗

Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with SGSH and GALNS Deficiencies.Semantic proximity Read ↗

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.Semantic proximity Read ↗

Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders.Semantic proximity Read ↗

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.Semantic proximity Read ↗

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.Semantic proximity Read ↗

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.Semantic proximity Read ↗

Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.Semantic proximity Read ↗

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.Semantic proximity Read ↗

Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.Semantic proximity Read ↗

A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family.Semantic proximity Read ↗

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani familiesSemantic proximity Read ↗

Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.