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 IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.

Clinical endocrinology - 1 Dec 2018

Roche Edna F, McGowan Anne, Koulouri Olympia, Turgeon Marc-Olivier, Nicholas Adeline K, Heffernan Emmeline, El-Khairi Ranna, Abid Noina, Lyons Greta, Halsall David, Bonomi Marco, Persani Luca, Dattani Mehul T, Gurnell Mark, Bernard Daniel J, Schoenmakers Nadia

Abstract excerpt

OBJECTIVE: Loss-of-function mutations in IGSF1 result in X-linked central congenital hypothyroidism (CeCH), occurring in isolation or associated with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF1 mutation and investigated its associated phenotypes in a large Irish kindred....

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Congenital Hypothyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunoglobulins

Share to Infant

Share to Ireland

Share to Membrane Proteins

Share to Thyroxine

Share to Triiodothyronine

Source

Open in PubMed Open full text

Identifiers

PMID: 30086211
DOI: 10.1111/cen.13827
PMCID: PMC6282842

Genes

IGSF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.PMID 30086211Read ↗

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.Semantic proximity Read ↗

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.Semantic proximity Read ↗

Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.Semantic proximity Read ↗

Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.Semantic proximity Read ↗

Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and MacroorchidismSemantic proximity Read ↗

A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 GeneSemantic proximity Read ↗

A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation.Semantic proximity Read ↗

A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.Semantic proximity Read ↗

Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations.Semantic proximity Read ↗

Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.Semantic proximity Read ↗

Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.Semantic proximity Read ↗

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4.Semantic proximity Read ↗

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