Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SAL-ähnliches Protein 4

Das SALL4-Gen kodiert einen Zink-Finger-Transkriptionsfaktor. Mutationen führen zu den autosomal dominanten Erkrankungen Akro-reno-okuläres Syndrom und IVIC-Syndrom.

Diagnostik:

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

Krankheiten:

Akro-reno-okuläres Syndrom
SALL4
IVIC-Syndrom
SALL4

Referenzen:

1.

Okihiro MM et. al. (1977) Duane syndrome and congenital upper-limb anomalies. A familial occurrence.

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2.

MacDermot KD et. al. (1987) Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.

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3.

None (1994) Thalidomide may be a mutagen.

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4.

Collins A et. al. (1993) Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations.

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5.

Deloukas P et. al. () The DNA sequence and comparative analysis of human chromosome 20.

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6.

Becker K et. al. (2002) Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.

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7.

Kohlhase J et. al. (2002) Okihiro syndrome is caused by SALL4 mutations.

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8.

Al-Baradie R et. al. (2002) Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

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9.

Brassington AM et. al. (2003) Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.

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10.

Kohlhase J et. al. (2002) Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome.

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11.

Kohlhase J et. al. (2003) Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

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12.

Parentin F et. al. (2003) Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.

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13.

Borozdin W et. al. (2004) SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.

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14.

Kohlhase J et. al. (2005) SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.

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15.

Koshiba-Takeuchi K et. al. (2006) Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart.

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16.

Miertus J et. al. (2006) A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

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17.

Terhal P et. al. (2006) A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.

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18.

Paradisi I et. al. (2007) IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.

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19.

Yong KJ et. al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.

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20.

Hopkins LJ et. al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.

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21.

Suzuki E et. al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.

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22.

Masuda S et. al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.

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