Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome

Sanjeev, Rama Krishna; Kapoor, Seema; Goyal, Manisha; Kapur, Rajiv; Gleeson, Joseph G.

doi:10.1155/2015/385910

Cited by 1 publication

(2 citation statements)

References 8 publications

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“…However, several peculiar phenotypes might be predicted, i.e., TMEM67 missense variants falling in exon 8 to 15, especially combined with a truncating variant would predict to give rise to Meckel-Gruber syndrome. In addition, most of TMEM67 sequence variants were predominantly located in 8 of 28 exons (2,6,8,11,13,15,18,24) [10]. Based on the review of TMEM67 sequence variations previously recorded in the medical literature, our report also showed several mutational hotspots, which were consistent with the result documented by Lannicelli et al, 2010.…”

Section: Discussionsupporting

confidence: 91%

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Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report

et al. 2020

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Background: Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles and a deep interpeduncular fossa, known as "molar tooth sign" associated with hypotonia, respiratory control disturbances and abnormal eye movements. To date, pathogenic variants in over 35 genes are known to cause autosomal recessive Joubert Syndrome, while one gene is associated with X-linked recessive inheritance. Case presentation: We describe here a non-consanguineous Vietnamese family with Joubert syndrome, a fetus and 10-year-old developmentally delayed boy. Ultrasonography showed ventriculomegaly at 26 + 6 weeks of gestation in the fetus. The 10-year-old-boy was diagnosed with cerebral palsy of unknown origin. Clinical physical examination at the age of 10, he showed clinical features of Joubert syndrome including typical facial dysmorphism, ataxia, severe psychomotor delay, oculomotor apraxia and molar tooth sign on brain MRI. Whole exome sequencing analysis identified a novel compound heterozygous c.725A > G p.Asn242Ser and c.313-3 T > G p.Lys105Valfs*16 TMEM67 variant in the proband and the affected fetus. These two variants were inherited from each parent and confirmed by Sanger sequencing. The variant c.725A > G p.Asn242Ser was previously documented in patients with JS, the novel splice-site c.313-3 T > G p.Lys105Valfs*16 TMEM67 variant produced an aberrant transcript with the loss of four nucleotides of exon 03. Conclusion: This study confirms the diagnosis of Joubert syndrome in a Vietnamese family and expands the mutational spectrum of TMEM67 sequence variations. We also highlight the importance of molecular approaches to unravel underlying mechanisms of human genetic disorders. Early precise diagnosis could help provide further accurate genetic counseling for recurrence-risk assessment, future diagnostic option, management as well as treatment guidance for rare disorders.

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Section: Discussionsupporting

confidence: 91%

“…Based on the review of TMEM67 sequence variations previously recorded in the medical literature, our report also showed several mutational hotspots, which were consistent with the result documented by Lannicelli et al, 2010. The most TMEM67 frequently mutated hotspot was exon 8, followed by exons 24,18,6,13,11,2,15 (Table 1).…”

Section: Discussionmentioning

confidence: 99%