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

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.

Journal of human genetics - 1 Jan 2015

Ganaha Akira, Kaname Tadashi, Akazawa Yukinori, Higa Teruyuki, Shinjou Ayano, Naritomi Kenji, Suzuki Mikio

Abstract excerpt

In this study, we describe three unrelated Japanese patients with hearing loss and symphalangism who were diagnosed with proximal symphalangism (SYM1), atypical multiple synostosis syndrome (atypical SYNS1) and stapes ankylosis with broad thumb and toes (SABTT), respectively, based on the clinical features. Surgical findings in the middle ear were similar among the patients. By next-generation and Sanger...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Congenital Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Foot Deformities, Congenital

Share to Growth Differentiation Factor 5

Share to Hand Deformities, Congenital

Share to Hearing Loss

Share to Synostosis

Source

Identifiers

PMID: 25391606
DOI: 10.1038/jhg.2014.97

Genes

NOG
FGF9
GDF5

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.PMID 25391606Read ↗

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.Semantic proximity Read ↗

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.Semantic proximity Read ↗

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.Semantic proximity Read ↗

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.Semantic proximity Read ↗

Multiple synostoses syndrome: Clinical report and retrospective analysis.Semantic proximity Read ↗

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).Semantic proximity Read ↗

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.Semantic proximity Read ↗

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.Semantic proximity Read ↗

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.Semantic proximity Read ↗

Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?Semantic proximity Read ↗

Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations.Semantic proximity Read ↗

Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.Semantic proximity Read ↗

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