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2015 ; 23
(5
): 616-20
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Tectonic gene mutations in patients with Joubert syndrome
#MMPMID25118024
Huppke P
; Wegener E
; Böhrer-Rabel H
; Bolz HJ
; Zoll B
; Gärtner J
; Bergmann C
Eur J Hum Genet
2015[May]; 23
(5
): 616-20
PMID25118024
show ga
So far very few patients with sequence variants in the closely related tectonic
genes TCTN1-3 have been described. By multi-gene panel next-generation sequencing
(NGS) in patients with Joubert syndrome, we identified two more patients and
summarize what is currently known about the phenotypes associated with sequence
variants in these genes. In a boy aged 12 years with intellectual disability and
the classical molar tooth sign on MRI, a homozygous splice-site sequence variant
in TCTN3 leading to in-frame skipping of exon 7 was detected. A previously
described non-truncating sequence variant in TCTN3 was also associated with
Joubert syndrome, whereas four truncating sequence variants were detected in
patients with Meckel-Gruber or Mohr-Majewski syndrome. The second patient, a boy
aged 7 years with severe psychomotor retardation, was found to carry a homozygous
canonic splice-site sequence variant in TCTN2. So far, only three sequence
variants associated with Joubert syndrome and two with Meckel-Gruber syndrome
have been described in this gene. Reviewing the clinical data on patients with
sequence variants in the tectonic genes TCTN1-3 reveals that all of them have a
neurological phenotype with vermis hypoplasia or occipital encephalocele
associated with severe intellectual disability in the surviving patients. In
contrast, other features frequently seen in patients with ciliopathies such as
nephronophthisis, liver fibrosis, retinal dystrophy or coloboma have not been
reported. Our patients emphasize the usefulness and efficacy of a comprehensive
NGS panel approach. A concise genetic diagnosis may help to prevent unnecessary
investigations and improve the clinical management of these patients.
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