Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI)

Mohammad M Al-Qattan; Ranad Shaheen; Fowzan S Alkuraya

doi:10.1002/ajmg.a.38336

Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI)

Am J Med Genet A. 2017 Sep;173(9):2439-2441. doi: 10.1002/ajmg.a.38336. Epub 2017 Jun 20.

Authors

Mohammad M Al-Qattan¹, Ranad Shaheen², Fowzan S Alkuraya^{2

3

4}

Affiliations

¹ Department of Surgery, King Saudi University, Riyadh, Saudi Arabia.
² Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
³ Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
⁴ Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.

PMID: 28631893
DOI: 10.1002/ajmg.a.38336

Abstract

Varadi syndrome is a subtype of orofaciodigital syndrome (OFDS) that combines the typical features of OFDS and the posterior fossa features of Joubert syndrome. The only gene known to be mutated in Varadi syndrome is C5ORF42. In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome.

Keywords: Joubert syndrome; TCTN1 gene; Varadi syndrome.

Publication types

Case Reports
Letter

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / physiopathology
Alleles
Base Sequence / genetics
Cerebellum / abnormalities*
Cerebellum / physiopathology
Child, Preschool
Ciliary Motility Disorders / genetics
Ciliary Motility Disorders / physiopathology
Encephalocele / genetics
Encephalocele / physiopathology
Eye Abnormalities / genetics*
Eye Abnormalities / physiopathology
Humans
Kidney Diseases, Cystic / genetics*
Kidney Diseases, Cystic / physiopathology
Male
Membrane Proteins / genetics*
Orofaciodigital Syndromes / genetics*
Orofaciodigital Syndromes / physiopathology
Phenotype
Polycystic Kidney Diseases / genetics
Polycystic Kidney Diseases / physiopathology
Retina / abnormalities*
Retina / physiopathology
Retinitis Pigmentosa

Substances

CPLANE1 protein, human
Membrane Proteins
Tctn1 protein, human

Supplementary concepts

Agenesis of Cerebellar Vermis
Meckel syndrome type 1
Orofaciodigital syndrome 6