Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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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