English Journal

[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL].

Aalimi U, Spiegel E, Chervinsky I, Attie-Bitach T, Elkhartoufi N, Saunier S, Vekemans M, Abulil-Zuabi U, Chemke M, Spiegel R, Salev S.
Harefuah.Harefuah.2015 Oct;154(10):632-6, 676.
BACKGROUND: Meckel-Gruber syndrome (MKS) is a lethal rare inherited autosomal recessive disease. The syndrome is characterized by multiple congenital anomalies including polycystic kidneys, occipital encephalocele and polydactyly. The presence of two out of these anomalies is sufficient for a defini
PMID 26742224

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.

Abdelhamed ZA1, Natarajan S2, Wheway G2, Inglehearn CF2, Toomes C2, Johnson CA3, Jagger DJ4.
Disease models & mechanisms.Dis Model Mech.2015 Jun;8(6):527-41. doi: 10.1242/dmm.019083. Epub 2015 Apr 7.
Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) kno
PMID 26035863

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Barisic I1, Boban L1, Loane M2, Garne E3, Wellesley D4, Calzolari E5, Dolk H2, Addor MC6, Bergman JE7, Braz P8, Draper ES9, Haeusler M10, Khoshnood B11, Klungsoyr K12, Pierini A13, Queisser-Luft A14, Rankin J15, Rissmann A16, Verellen-Dumoulin C17.
European journal of human genetics : EJHG.Eur J Hum Genet.2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3.
Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Co
PMID 25182137

「グルーバー症候群」

英: Gruber syndrome
同: メッケル症候群 Meckel症候群 Meckel syndrome、メッケル・グルーバー症候群 Meckel-Gruber syndrome、肝腎多嚢胞性髄膜脳瘤 dysencephalia splanchnocystica

グルーバー症候群 : 45 件
メッケル症候群 : 31 件
メッケル-グルーバー症候群 : 42 件
肝腎多嚢胞性髄膜脳瘤 : 2 件

出生前診断が可能(胎児エコーと母体高αフェトプロテイン血症)