Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

None (1994) Thalidomide may be a mutagen.

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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.

external link
15.

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.

external link
16.

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

external link
17.

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.

external link
18.

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

external link
19.

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.

external link
20.

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

external link
21.

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.

external link
22.

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

external link
23.

Orphanet article

Orphanet ID 118456 external link
24.

NCBI article

NCBI 57167 external link
25.

OMIM.ORG article

Omim 607343 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz