Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Hyophysenhormonmangel Typ 3

Der kombinierter Hypophysenhormonmangel mit verteifter Halswirbelsäule ist eine autosomal rezessive Erkrankung die durch Mutationen im LHX3-Gen hervorgerufen wird. Neben dem Mangel an fast allen Hypophysenhormonen fällt bei den Patienten eine Versteifung der Halswirbelsäule und eine Innenohrschwerhörigkeit auf.

Gliederung

Kombinierter Hypophysenhormon-Mangel
Hyophysenhormonmangel Typ 1
Hyophysenhormonmangel Typ 2
Hyophysenhormonmangel Typ 3
LHX3
Hyophysenhormonmangel Typ 4
Hyophysenhormonmangel Typ 5

Referenzen:

1.

Freyd G et al. (1990) Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11.

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2.

Rajab A et al. (2008) Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.

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3.

Pfaeffle RW et al. (2007) Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

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4.

Bhangoo AP et al. (2006) Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.

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5.

Lee SK et al. (2003) Synchronization of neurogenesis and motor neuron specification by direct coupling of bHLH and homeodomain transcription factors.

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6.

Thaler JP et al. (2002) LIM factor Lhx3 contributes to the specification of motor neuron and interneuron identity through cell-type-specific protein-protein interactions.

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7.

Sharma K et al. (2000) Genetic and epigenetic mechanisms contribute to motor neuron pathfinding.

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8.

Netchine I et al. (2000) Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

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9.

Sloop KW et al. (2000) Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9.

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10.

Sloop KW et al. (1999) Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties.

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11.

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

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12.

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

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13.

Mbikay M et al. (1995) Linkage mapping of the gene for the LIM-homeoprotein LIM3 (locus Lhx3) to mouse chromosome 2.

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14.

Zhadanov AB et al. (1995) Genomic structure and chromosomal localization of the mouse LIM/homeobox gene Lhx3.

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15.

Zhadanov AB et al. (1995) Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues.

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16.

Tsuchida T et al. (1994) Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes.

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17.

Way JC et al. (1988) mec-3, a homeobox-containing gene that specifies differentiation of the touch receptor neurons in C. elegans.

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18.

Sloop KW et al. (2000) Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.

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19.

OMIM.ORG article

Omim 221750 external link
Update: 14. August 2020
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