Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

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.

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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4.

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

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5.

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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6.

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

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7.

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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8.

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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9.

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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10.

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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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

None (1994) Thalidomide may be a mutagen.

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17.

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

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18.

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

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19.

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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20.

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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21.

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

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22.

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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23.

Orphanet article

Orphanet ID 118456 [^]
24.

NCBI article

NCBI 57167 [^]
25.

OMIM.ORG article

Omim 607343 [^]
Update: 29. April 2019