PMID- 10577920
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 6
DP  - 1999 Dec
TI  - Homozygosity mapping in families with Joubert syndrome identifies a locus on
      chromosome 9q34.3 and evidence for genetic heterogeneity.
PG  - 1666-71
AB  - Joubert syndrome is a rare developmental defect of the cerebellar vermis, with
      autosomal recessive inheritance. The phenotype is highly variable and may include
      episodic hyperpnea, abnormal eye movements, hypotonia, ataxia, developmental
      delay, and mental retardation. Even within sibships the phenotype may vary,
      making it difficult to establish the exact clinical diagnostic boundaries of
      Joubert syndrome. To genetically localize the gene region, we have performed a
      whole-genome scan in two consanguineous families of Arabian/Iranian origins, with
      multiple affected probands. In one family, we detected linkage to the telomeric
      region of chromosome 9q, close to the marker D9S158, with a multipoint LOD score 
      of Z=+3.7. The second family did not show linkage to this region, giving a first 
      indication of genetic heterogeneity underlying Joubert syndrome. These findings
      were supported by subsequent analysis of two smaller families-one compatible with
      linkage to 9q; the other, unlinked. We conclude that Joubert syndrome is
      clinically and genetically heterogeneous and that one locus maps to chromosome
      9q.
FAU - Saar, K
AU  - Saar K
AD  - 1Mikrosatellitenzentrum, Max-Delbruck-Centrum, Humboldt University, Berlin,
      Germany.
FAU - Al-Gazali, L
AU  - Al-Gazali L
FAU - Sztriha, L
AU  - Sztriha L
FAU - Rueschendorf, F
AU  - Rueschendorf F
FAU - Nur-E-Kamal, M
AU  - Nur-E-Kamal M
FAU - Reis, A
AU  - Reis A
FAU - Bayoumi, R
AU  - Bayoumi R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Cerebellum/*abnormalities
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Consanguinity
MH  - Female
MH  - Genes, Recessive/genetics
MH  - *Genetic Heterogeneity
MH  - Genetic Linkage/*genetics
MH  - Genetic Markers/genetics
MH  - Haplotypes
MH  - Homozygote
MH  - Humans
MH  - Iran
MH  - Male
MH  - Oman
MH  - Pedigree
MH  - Syndrome
MH  - Telomere/genetics
PMC - PMC1288377
EDAT- 1999/12/01 09:00
MHDA- 2000/03/21 09:00
CRDT- 1999/12/01 09:00
PHST- 1999/12/01 09:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/12/01 09:00 [entrez]
AID - S0002-9297(07)63586-1 [pii]
AID - 10.1086/302655 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Dec;65(6):1666-71. doi: 10.1086/302655.