Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.


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



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

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

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

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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.

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

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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.

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

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

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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.

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

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Orphanet article

Orphanet ID 138383 external link

NCBI article

NCBI 89884 external link

OMIM.ORG article

Omim 602146 external link

Wikipedia article

Wikipedia EN (LHX4) external link
Update: Aug. 14, 2020
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