"Whole-exome Sequencing" search results...

A newly identified c.965C>T (p.Ala322Val) missense mutation in the GALNS gene has been associated with the severe form of Morquio syndrome (MPS IVA); the diagnosis was confirmed in a 3-year-old patient with skeletal abnormalities through whole exome sequencing, and early enzyme replacement therapy has been recommended to slow disease progression.

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.

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.

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.

XLH

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia

2022-02-17

This study's genetic and functional investigations revealed a novel genetic cause of XLH: The heterozygous mutation of PHEX (NM 000444.5: c.1768G > A).

CSID

Two Novel Mutations in the SI Gene Associated with Congenital Sucrase-Isomaltase Deficiency: A Case Report in China

2021-12-09

This article reports a case of novel variants in the SI gene that caused CSID. This report provides valuable information for the clinical field, especially in China.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

MPS

A Novel Missense Mutation (c.965C>T, p.Ala322Val) in the GALNS Gene: A Severe MPS IVA Case

GAUCHER

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

PHEX

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

CLN2

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

NMDS

Novel compound heterozygous mutations in the TTN gene

XLH

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia

CSID

Two Novel Mutations in the SI Gene Associated with Congenital Sucrase-Isomaltase Deficiency: A Case Report in China

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