Meckel syndrome

Definition:

Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system, cystic dysplasia of the kidneys, and malformations of the hands and feet.

References:

[1]. Borislav A Alexiev, et al. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med. 2006 Aug;130(8):1236-8. [Content Brief]

[2]. Carsten Bergmann, et al. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet. 2008 Apr;82(4):959-70. [Content Brief]

[3]. Chih-Ping Chen, et al. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan J Obstet Gynecol. 2007 Mar;46(1):9-14. [Content Brief]

[4]. Enza Maria Valente, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010 Jul;42(7):619-25. [Content Brief]

[5]. I Filges, et al. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Clin Genet. 2014 Sep;86(3):220-8. [Content Brief]

[6]. Jonna Tallila, et al. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet. 2008 Jun;82(6):1361-7. [Content Brief]

[7]. Konstantin Ridnõi, et al. A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. Mol Genet Genomic Med. 2019 May;7(5):e614. [Content Brief]

[8]. Marion Delous, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul;39(7):875-81. [Content Brief]

[9]. Mira Kyttälä, et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet. 2006 Feb;38(2):155-7. [Content Brief]

[10]. Nils J Lambacher, et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat Cell Biol. 2016 Jan;18(1):122-31. [Content Brief]

[11]. Ranad Shaheen, et al. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum Mutat. 2011 Jun;32(6):573-8. [Content Brief]

[12]. Ranad Shaheen, et al. Mutations in TMEM231 cause Meckel-Gruber syndrome. J Med Genet. 2013 Mar;50(3):160-2. [Content Brief]

[13]. Valeska Frank, et al. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat. 2008 Jan;29(1):45-52. [Content Brief]

[14]. William E Dowdle, et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet. 2011 Jul 15;89(1):94-110. [Content Brief]

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