𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Analysis of Smoothened as a candidate gene for human holoprosencephaly

✍ Scribed by Jeffrey E. Ming; Bennie Jeng; Frederic J. deSauvage; Maximilian Muenke

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
56 KB
Volume
3
Category
Article
ISSN
1438-7506

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Holoprosencephaly (HPE) is the most common structural congenital forebrain malformation in humans and is associated with mental retardation and craniofacial abnormalities. In HPE, the cerebral hemispheres fail to separate into distinct right and left halves. The condition is etiologically heterogeneous, as multiple genes and environmental factors are associated with the condition. Autosomal dominant HPE can be caused by mutations in Sonic Hedgehog (SHH). Smoothened (SMOH; human gene) encodes a transmembrane protein that acts in SHH signal transduction. Because of the critical role of SMOH in the SHH pathway, we performed mutation analysis of this gene in familial and sporadic cases of HPE. Although we identified a number of nucleotide changes in SMOH in affected patients, none of these changes is likely to be pathogenic. Thus, haploinsufficiency for SMOH is unlikely to be a significant cause of human HPE in live‐born infants.

πŸ“œ SIMILAR VOLUMES

Evaluation of RGS4 as a candidate gene f
Evaluation of RGS4 as a candidate gene for schizophrenia
✍ Yu-Li Liu; Cathy Shen-Jang Fann; Chih-Min Liu; Jer-Yuarn Wu; Shuen-Iu Hung; Hung πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 56 KB πŸ‘ 2 views
Exclusion of BMP6 as a candidate gene fo
Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia
✍ Innis, Jeffrey W.; Asher,, James H.; Liang, Yong; Wang, Aihui; Wilke, Charles M. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 47 KB πŸ‘ 3 views

Cleidocranial dysplasia (CCD) is an autosomal dominant, generalized skeletal dysplasia in humans that has been mapped to the short arm of chromosome 6. We report linkage of a CCD mutation to 6p21 in a large family and exclude the bone morphogenetic protein 6 gene (BMP6) as a candidate for the diseas

Analysis of the genomic structure of the
Analysis of the genomic structure of the human glycine receptor ?2 subunit gene and exclusion of this gene as a candidate for Rett syndrome
✍ Cummings, Chris J.; Dahle, E. Jill Roth; Zoghbi, Huda Y. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 28 KB πŸ‘ 2 views

The gene that encodes the human ␣2 subunit of the inhibitory glycine receptor (GLRA2) is located on the X chromosome (Xp22.2) in a candidate region for a number of neurological disorders. Recently, an exclusion mapping strategy identified this region to be concordant in familial Rett syndrome (RTT)