RGD Reference Report - The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. - Rat Genome Database

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The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

Authors: Zaki, MS  Abdel-Aleem, A  Abdel-Salam, G  Marsh, SE  Silhavy, JL  Barkovich, AJ  Ross, ME  Saleem, SN  Dobyns, WB  Gleeson, JG 
Citation: Zaki MS, etal., Neurology. 2008 Feb 12;70(7):556-65. doi: 10.1212/01.wnl.0000277644.12087.fd.
RGD ID: 11537395
Pubmed: PMID:18268248   (View Abstract at PubMed)
DOI: DOI:10.1212/01.wnl.0000277644.12087.fd   (Journal Full-text)

Joubert syndrome and related cerebellar disorders (JSRD) are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. The pathognomonic finding in JSRD is the unique molar tooth sign (MTS) on brain imaging. There is a tremendously broad spectrum of signs and symptoms mainly including kidney, retina, and liver disease, along with polydactyly and facial dysmorphisms. Here we propose a new diagnostic classification within JSRD that includes four major subtypes. To test this classification, we performed a systematic recruitment and genetic evaluation from a single referral center in Egypt. Thirteen families were identified, four showed evidence of linkage to one of the four known genetic loci, three showed novel AHI1 mutations, and nine were excluded from known loci. Each family could be classified into one of the four subtypes. This classification may thus be useful in the evaluation of patients with JSRD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Joubert syndrome 3  IAGP 11537395DNA:nonsense mutations:exon:3263_3264del and 1181G>A (human)RGD 
Joubert syndrome 3  ISOAHI1 (Homo sapiens)11537395; 11537395DNA:nonsense mutations:exon:3263_3264del and 1181G>A (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ahi1  (Abelson helper integration site 1)

Genes (Mus musculus)
Ahi1  (Abelson helper integration site 1)

Genes (Homo sapiens)
AHI1  (Abelson helper integration site 1)


Additional Information