Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

LIM/homeobox protein Lhx4

The LHX4 gene encodes a transcription factor that is required for pituitary development. Mutations in this gene cause autosomal dominant combined pituitary hormone deficiency 4.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pituitary hormone deficiency type 4
LHX4

References:

1.

Sheng HZ et al. (1996) Specification of pituitary cell lineages by the LIM homeobox gene Lhx3.

external link
2.

Sharma K et al. (1998) LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons.

external link
3.

Machinis K et al. (2001) Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

external link
4.

Tajima T et al. (2007) A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.

external link
5.

Pfaeffle RW et al. (2008) Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.

external link
6.

Li H et al. (1994) Gsh-4 encodes a LIM-type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survival.

external link
7.

Yamashita T et al. (1997) Lhx4, a LIM homeobox gene.

external link
8.

Sheng HZ et al. (1997) Multistep control of pituitary organogenesis.

external link
9.

Kawamata N et al. (2002) A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4.

external link
10.

Castinetti F et al. (2008) A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.

external link
11.

Orphanet article

Orphanet ID 138383 external link
12.

NCBI article

NCBI 89884 external link
13.

OMIM.ORG article

Omim 602146 external link
14.

Wikipedia article

Wikipedia EN (LHX4) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits