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Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

Abstract：

: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 a 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 suffer from associated anomalies.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Edvardson S,Shaag A,Zenvirt S,Erlich Y,Hannon GJ,Shanske AL,Gomori JM,Ekstein J,Elpeleg O

doi

10.1016/j.ajhg.2009.12.007

subject

Has Abstract

pub_date

2010-01-01 00:00:00

pages

93-7

issue

1

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(09)00568-0

journal_volume

86

pub_type

杂志文章

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