Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Akro-reno-okuläres Syndrom

Das Akro-reno-okuläres Syndrom ist eine autosomal dominantes Felbildungssyndrom, die durch Mutationen im SALL4-Gen hervorgerufen wird. Fehlbildungen finden sich insbesondere am radialen Strahl, den Nieren (Malrotation, Ektopie, Hufeisenniere, Hypoplasie, vesiko-urethaler Reflux, Blasendivertikel) und am Auge (Kolobom, Mikrophthalmie, Ptosis, Duane-Anomalie).

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Akro-reno-okuläres Syndrom
SALL4
Autosomal dominantes Robinow-Syndrom 1
BMP7
BNAR-Syndrom
Branchio-okulo-faziales Syndrom
Branchio-oto-renale Dysplasie
Branchiootische Syndrom
CHARGE-Syndrom
CHD1L
Denys-Drash-Syndrom
Fraser-Syndrom
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Hirnmalformation mit Urogenitaldefekten
IVIC-Syndrom
Ivemark-Syndrom
Kabuki-Syndrom
Kongenitale Anomalien der Niere und des Harntraktes 1
Kongenitale Anomalien der Niere und des Harntraktes 2
Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
Lakrimo-aurikulo-dento-digitales Syndrom
Mowat-Wilson-Syndrom
Neigung zu zystischen Nierenfehlbildung
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renal-hepatisch-pankreatische Dysplasie
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
SERKAL-Syndrom
Simpson-Golabi-Behmel-Syndrom
Smith-Lemli-Opitz-Syndrom
Somatisches Nephroblastom
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
Urofaziales Syndrom
Vesicoureteraler Reflux
WAGR-Syndrom

Referenzen:

1.

Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.

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2.

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

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3.

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

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4.

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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5.

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

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6.

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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7.

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

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8.

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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9.

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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10.

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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11.

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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12.

Pierquin G et. al. (1991) A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects? A brief clinical report.

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13.

None (1986) The DR syndrome or the Okihiro syndrome?

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14.

Hayes A et. al. (1985) The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.

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15.

Ferrell RL et. al. (1966) Simultaneous occurrence of the Holt-Oram and the Duane syndromes.

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16.

Halal F et. al. (1984) Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.

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17.

Aalfs CM et. al. (1996) Further delineation of the acro-renal-ocular syndrome.

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