Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.

doi:10.1002/pd.247

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

Back to search

Article

Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.

Prenatal diagnosis - 1 Feb 2002

Bitoun E, Bodemer C, Amiel J, de Prost Y, Stoll C, Calvas P, Hovnanian A

Abstract excerpt

Netherton syndrome (NS) is a severe autosomal recessive ichthyosis with no specific treatment or prenatal diagnosis available at present. The recent identification of SPINK5, which encodes a serine protease inhibitor, as the defective gene enables DNA based prenatal diagnosis to be carried out. Here we report the first direct molecular prenatal diagnosis of a lethal form due to a recurrent SPINK5 mutation in...

Topics

Amniocentesis
Carrier Proteins
Chorionic Villi Sampling
Consanguinity
DNA Mutational Analysis
Deoxyribonucleases, Type II Site-Specific
Female
Genetic Counseling
Genotype
Heterozygote
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Ichthyosis

Male

Pedigree

Pregnancy

Prenatal Diagnosis

Proteinase Inhibitory Proteins, Secretory

Source

Open in PubMed

Identifiers

PMID: 11857617
DOI: 10.1002/pd.247

Genes

SPINK5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.PMID 11857617Read ↗

A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.Semantic proximity Read ↗

Netherton Syndrome: A Genotype-Phenotype Review.Semantic proximity Read ↗

Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.Semantic proximity Read ↗

Netherton Syndrome in a Mother and Her Two Children.Semantic proximity Read ↗

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.Semantic proximity Read ↗

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.Semantic proximity Read ↗

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.Semantic proximity Read ↗

Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5.Semantic proximity Read ↗

Netherton syndrome: A neonatal case with respiratory insufficiency.Semantic proximity Read ↗

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.Semantic proximity Read ↗

[A lethal variant of Netherton syndrome in a large inbred family].Semantic proximity Read ↗

Netherton syndrome: mutation analysis of two Taiwanese families.Semantic proximity Read ↗

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