Asset Details
Do you wish to reserve the book?
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
Do you wish to request the book?
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
2005
Overview
Townes‐Brocks syndrome is an autosomal dominantly inherited disorder, which comprises multiple birth defects including renal, ear, anal, and limb malformations. TBS has been shown to result from mutations in SALL1, a human gene related to the developmental regulator SAL of Drosophila melanogaster. The SALL1 gene product is a zinc finger protein thought to act as a transcription factor. It contains four highly conserved, evenly distributed C2H2 double zinc finger domains. A single C2H2 motif is attached to the second domain, and at the amino terminus SALL1 contains a C2HC motif. Most mutations causing TBS are clustered in the N‐terminal third of the SALL1 coding region and result in the production of truncated proteins containing only one or none of the C2H2 domains and the N‐terminal transcriptional repressor domain of SALL1. Twenty‐three SALL1 mutations were reported prior to this work, 22 of which are located in exon 2, 5′ of the second double zinc finger‐encoding region. Here we present 12 novel mutations in SALL1 associated with Townes‐Brocks syndrome in 13 unrelated families. These include three nonsense mutations, three short insertions and six short deletions. Thus the number of SALL1 mutations increases to 35. Rare phenotypical features among mutation positive patients include hypothyroidism, vaginal aplasia with bifid uterus, cryptorchidism, bifid scrotum without hypospadia scrotalis, unilateral chorioretinal coloboma with loss of vision, dorsal hypoplasia of the corpus callosum, and umbilical hernia. © 2005 Wiley‐Liss, Inc.
Publisher
Wiley Subscription Services, Inc., A Wiley Company,John Wiley & Sons, Inc
Subject
