Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Gillessen-Kaesbach-Nishimura-Syndrom

Das Gillessen-Kaesbach-Nishimura-Syndrom ist eine autosomal rezessive Glykosilierungsstörung, die durch Mutationen im ALG9-Gen hervorgerufen wird. Die renale Manifestation sind Potter-Typ 1 polyzystische Nieren.

Gliederung

Kongenitale Glykosilierungsstörung
Gillessen-Kaesbach-Nishimura-Syndrom
ALG9
Kongenitale Glykosilierungsstörung 1A
Kongenitale Glykosilierungsstörung 1L

Referenzen:

1.

Tham E et. al. (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

[^]
2.

Gillessen-Kaesbach G et. al. (1993) New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.

[^]
3.

Nishimura G et. al. (1998) A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents.

[^]
4.

Hallermann C et. al. (2000) Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.

[^]