Discover Community Create You

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

Article

A Novel De Novo KAT6B Mutation Causes Hypospadias in a Chinese Fetus at 29 Weeks Gestation.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Jul 2025

Zhong Xue, Liu Meixin, Gao Qun, Li Monong, Liu Shiguo

Abstract excerpt

KAT6B mutations are responsible for Say-Barber-Biesecker-Young-Simpson syndrome or Genitopatellar syndrome, with most mutations occurring in its exon 18. A pregnancy with normal early antenatal examination revealed the presence of hypospadias in the fetus but with no abnormal amniotic fluid volume in ultrasonography at 29th+ 4d weeks' gestation. After amniocentesis, the trios' whole exome sequencing was performed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to East Asian People
Share to Frameshift Mutation
Share to Gestational Age

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histone Acetyltransferases

Share to Hypospadias

Share to Mutation

Share to Pregnancy

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 40263164
DOI: 10.1007/s43032-025-01860-4

Genes

KAT6B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel De Novo KAT6B Mutation Causes Hypospadias in a Chinese Fetus at 29 Weeks Gestation.PMID 40263164Read ↗

A novel nonsense variant of the KAT6B gene associated with cystic hygroma in fetusSemantic proximity Read ↗

De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.Semantic proximity Read ↗

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.Semantic proximity Read ↗

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.Semantic proximity Read ↗

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.Semantic proximity Read ↗

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.Semantic proximity Read ↗

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.Semantic proximity Read ↗

[Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome].Semantic proximity Read ↗

A case of KAT6A syndrome with a newly discovered mutation in the KAT6A gene, mainly manifested as bone marrow failure syndrome.Semantic proximity Read ↗

[Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene].Semantic proximity Read ↗

A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.Semantic proximity Read ↗

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.Semantic proximity Read ↗

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