LIM/Homeobox-Protein Lhx4
Das LHX4-Gen kodiert einen Transkriptionsfaktor, der für die normale Entwicklung der Hypophyse verantwortlich zeichnet. Mutatonen verursachen die autosomal dominant Erkrankung Hyophysenhormonmangel Typ 4.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Sheng HZ et al. (1996) Specification of pituitary cell lineages by the LIM homeobox gene Lhx3.
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2. |
Sharma K et al. (1998) LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons.
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3. |
Machinis K et al. (2001) Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
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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.
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5. |
Pfaeffle RW et al. (2008) Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
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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.
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7. |
Yamashita T et al. (1997) Lhx4, a LIM homeobox gene.
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8. |
Sheng HZ et al. (1997) Multistep control of pituitary organogenesis.
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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.
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10. |
Castinetti F et al. (2008) A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.
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11. |
Orphanet article
Orphanet ID 138383
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12. |
NCBI article
NCBI 89884
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13. |
OMIM.ORG article
Omim 602146
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Update: 14. August 2020