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Article

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.

Human genetics - 1 Apr 1996

Bilbao J R, Loridan L, Castaño L

Abstract excerpt

The Y chromosome gene SRY plays an important role in normal male sexual development and is thought to be the testis-determining factor. We describe a familial nonsense mutation in SRY, shared by two XY sisters with complete gonadal dysgenesis and, in a mosaic manner, by their father. This mutation, consisting of a C to T transition in position 1 of codon 97 of SRY, results in a truncated peptide with an...

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Source

Identifiers

PMID: 8834258
DOI: 10.1007/BF02267082

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.PMID 8834258Read ↗

A Novel SRY Pathogenic Variant from a 46,XY Female Harboring a Nonsense Point Mutation (G to A) in Position 293Semantic proximity Read ↗

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.Semantic proximity Read ↗

Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis SyndromeSemantic proximity Read ↗

Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.Semantic proximity Read ↗

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.Semantic proximity Read ↗

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.Semantic proximity Read ↗

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.Semantic proximity Read ↗

Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.Semantic proximity Read ↗

The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.Semantic proximity Read ↗

Candidate genes in complete and partial XY sex reversal: mutation analysis of SRY, SRY-related genes and FTZ-F1.Semantic proximity Read ↗

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formationSemantic proximity Read ↗

Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patient.Semantic proximity Read ↗

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