Rare Diseases

Current bibliography for experts

PHEX

X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant

2023-07-17

This article presents a family with X-linked hypophosphatemia (XLH) who harbors the exon 13-15 duplication but does not carry the 3'UTR variant.

XLSD

Pilot study of newborn screening for six lysosomal diseases in Brazil

2023-07-13

This study indicates that the use of enzyme assay as the first-tier test gives an acceptably low number of positive results that requires second/third tier testing.

ASMD

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

2023-06-06

This article reports the first description of all six diagnosed acid sphingomyelinase deficiency cases in Hungary.

MPS

Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study

2023-06-01

This study aimed to characterize the clinical characteristics and genotypes of the largest cohort of Chinese patients with mucopolysaccharidosis type II (MPS II).

MPS

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

2023-04-05

The aim of the present study was to identify novel genes and pathogenic variants in families from diverse regions of Pakistan with clinically diagnosed mucopolysaccharidosis type I and mucopolysaccharidosis type II.

NIEMANN-PICK

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

2022-09-16

This article reports a case of Niemann Pick disease type B with sea-blue histiocytes that was misdiagnosed as Budd-Chiari syndrome for three years.

GAUCHER

Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey

2022-08-29

It should be borne in mind that cardiac and pulmonary involvement, as well as immune dysfunction in LSDs, may cause an increased need for intensive care because of secondary bacterial infections.

ALFA-MANNOSIDOZ

Mortality in patients with alpha-mannosidosis: A review of patients' data and the literature

2022-07-23

This study aimed to investigate the age at death and the causes of death of patients with alpha-mannosidosis who had not received disease-modifying treatment.

ASMD

Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges

2022-07-19

Two case studies are presented, which illustrate the spectrum of disease in patients with a compound heterozygous Q294K pathogenic variant and the impact of false normal ASM activity results.

XLH

Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription

2022-06-02

This study verified the pathogenicity of the two variants and revealed the possible regulatory mechanism between PHEX and FGF23.

MPS

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

2022-05-27

A variant in the form of IDUA gene deletion may indicate an early severe phenotypic presentation of Mucopolysaccharidosis type I (MPS I).

NMDS

Novel compound heterozygous mutations in the TTN gene

2022-05-01

This study reports the first identification of an elongation mutation in the TTN gene, broadening the genetic mutation spectrum of LGMD2J.

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