Rare Diseases

Current bibliography for experts

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ADA

Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants

2025-01-01

This study systematically assessed the pathogenic potential of 46 rare ADA missense variants by expressing them in an Escherichia coli system.

GAUCHER

Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

2023-01-01

This report provides the precious experience of the clinical presentation of perinatal lethal Gaucher disease (PLGD) and advice on reproductive medicine for the next pregnancy in a couple.

PHEX

A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia

2022-12-01

This study extends the genetic spectrum of XLH and confirms the rarity and significance of synonymous PHEX variants.

XLH

A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia

2022-09-28

This article presents a family with X-linked hypophosphatemia (XLH) due to a novel synonymous PHEX variant with a unique mechanism.

CLN2

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

2022-08-31

This article reports a rare case of neuronal ceroid lipofuscinosis type 2 (CLN2) caused by two novel variants of TPP1.

PHEX

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

2022-07-01

This study highlights the dominant role of PHEX in hypophosphatemic rickets (HR) and expand the genotypic and phenotypic spectra of this disorder.

POMPE

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants

2022-01-15

In this study, 76 Spanish patients are reported with either infantile or late onset form of Pompe disease. Functional characterization of some splice mutations showed deleterious mechanisms on the processing of mRNA.

MPS

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

2021-08-13

Mutation updates are essential for the correct molecular diagnoses, genetic counseling, prenatal and preimplantation diagnosis, and disease management.

POMPE

Molecular genetics of Pompe disease: A comprehensive overview

2019-07-01

To date, 582 mutations have been reported across the entire GAA gene which cause Pompe disease (PD). The data gathered in this review gives an overview of the molecular genetics of PD and can be used to help with diagnosis and genetic counselling of families who are affected by this disorder.

POMPE

A genetic modifier of symptom onset in Pompe disease

2019-05-01

A cohort of 143 compound heterozygous and 10 homozygous IVS1 patients were analyzed in this article. c.510CNT is a genetic modifier in compound heterozygous and homozygous IVS1 patients. This finding is important for neonatal screening programs for Pompe disease.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

European Congress on Rare Diseases and Orphan Drugs

One of the leading events in the field of rare diseases and orphan drugs, the European Congress on Rare Diseases and Orp...

I-PAS Academy

I-PAS Academy, of which Gene2Info is one of the sponsors, will be held in Muğla between October 24-26, 2025.

All News

Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...