Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hyophysenhormonmangel Typ 4
LHX4

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.

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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4.

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

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5.

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

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6.

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

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7.

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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8.

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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9.

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

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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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Update: 26. September 2018