Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

被引：82

作者：

Edvardson, Simon ^{[2
]}

Shaag, Avraham ^{[1
]}

Zenvirt, Shamir ^{[3
]}

Erlich, Yaniv ^{[5
,6
]}

Hannon, Gregory J. ^{[5
,6
]}

Shanske, Alan L. ^{[8
]}

Gomori, John Moshe ^{[4
]}

Ekstein, Joseph ^{[7
,9
]}

Elpeleg, Orly ^{[1
,3
]}

机构：

[1] Hadassah Hebrew Univ, Med Ctr, Metab Dis Unit, IL-91120 Jerusalem, Israel

[2] Hadassah Hebrew Univ, Med Ctr, Pediat Neurol Unit, IL-91120 Jerusalem, Israel

[3] Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel

[4] Hadassah Hebrew Univ, Med Ctr, Dept Radiol, IL-91120 Jerusalem, Israel

[5] Cold Spring Harbor Lab, Watson Sch Biol Sci, Cold Spring Harbor, NY 11724 USA

[6] Cold Spring Harbor Lab, Howard Hughes Med Inst, Cold Spring Harbor, NY 11724 USA

[7] Dor Yeshorim, Brooklyn, NY 11219 USA

[8] Albert Einstein Coll Med, Childrens Hosp Montefiore, Ctr Craniofacial Disorders, Bronx, NY 10461 USA

[9] Dor Yeshorim, IL-97774 Jerusalem, Israel

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2010年 / 86卷 / 01期

关键词：

MALFORMATION; DISORDERS; CAPTURE; GENE;

D O I：

10.1016/j.ajhg.2009.12.007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, ataxia, nystagmus, and oculomotor apraxia and variably associated with dysmorphism, as well as retinal and renal involvement. Brain MRI results show cerebellar vermis hypoplasia and additional anomalies of the fourth ventricle, corpus callosum, and occipital cortex. The disease has previously been mapped to the centromeric region of chromosome 11. Using homozygosity mapping in 13 patients from eight Ashkenazi Jewish families, we identified a homozygous Mutation, R12L, in the TMEM216 gene, in all affected individuals. Thirty individuals heterozygous for the Mutation were detected among 2766 anonymous Ashkenazi Jews, indicating it carrier rate of 1:92. Given the small size of the TMEM216 gene relative to other JBTS genes, its sequence analysis is warranted in all JBTS patients, especially those who stiffer from associated anomalies.

引用

页码：93 / 97

页数：5

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