Isolated congenital anosmia locus maps to 18p11.23-q12.2

Ghadami, Mohsen

doi:10.1136/jmg.2003.015313

Cited by 22 publications

(15 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The mode of transmission of syndromic CA is mainly determined by that of the underlying syndrome. Genome mapping performed in two ICA Iranian familial cases with autosomal transmission and incomplete penetrance led to the mapping of a candidate region on chromosome 18 (4,6). Recently, screening of three genes encoding the three major transduction components of primary sensory neurons failed to identify causative mutations in patients with ICA (3).…”

Section: Introductionmentioning

confidence: 99%

PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency

Moya‐Plana

Villanueva

Laccourreye

et al. 2013

European Journal of Endocrinology

View full text Add to dashboard Cite

Objective: Isolated congenital anosmia (ICA) is a rare phenotype defined as absent recall of any olfactory sensations since birth and the absence of any disease known to cause anosmia. Although most cases of ICA are sporadic, reports of familial cases suggest a genetic cause. ICA due to olfactory bulb agenesis and associated to hypogonadotropic hypogonadism defines Kallmann syndrome (KS), in which several gene defects have been described. In KS families, the phenotype may be restricted to ICA. We therefore hypothesized that mutations in KS genes cause ICA in patients, even in the absence of family history of reproduction disorders. Design and methods: In 25 patients with ICA and olfactory bulb agenesis, a detailed phenotype analysis was conducted and the coding sequences of KAL1, FGFR1, FGF8, PROKR2, and PROK2 were sequenced. Results: Three PROKR2 mutations previously described in KS and one new PROK2 mutation were found. Investigation of the families showed incomplete penetrance of these mutations. Conclusions: This study is the first to report genetic causes of ICA and indicates that KS genes must be screened in patients with ICA. It also confirms the considerable complexity of GNRH neuron development in humans.

show abstract

Section: Introductionmentioning

confidence: 99%

PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency

Moya‐Plana

Villanueva

Laccourreye

et al. 2013

European Journal of Endocrinology

View full text Add to dashboard Cite

show abstract

“…Familial segregation of ICA has been reported showing all types of Mendelian inheritance patterns (2,(5)(6)(7)(8)(9) and in two Iranian families with dominantly segregating ICA a linkage region has been established on chromosome 18p11.23-q12.2 (10). Familial segregation of ICA has been reported showing all types of Mendelian inheritance patterns (2,(5)(6)(7)(8)(9) and in two Iranian families with dominantly segregating ICA a linkage region has been established on chromosome 18p11.23-q12.2 (10).…”

mentioning

confidence: 99%

The first mutation in CNGA2 in two brothers with anosmia

et al. 2014

View full text Add to dashboard Cite

Isolated congenital anosmia (ICA) is a rare disorder, where otherwise healthy individuals present with an inability to smell since birth. A list of studies have described the genes involved in syndromic anosmia; however, the genetics of ICA is still in its infancy. Studies in mice show that the cyclic nucleotide-gated channel subunit CNGA2, expressed in the olfactory epithelium has a crucial role in olfactory signal transduction. We have identified a novel X-linked stop mutation in CNGA2 (c.634C>T, p.R212*) in two brothers with ICA using exome sequencing. No additional mutations in CNGA2 were identified in a cohort of 31 non-related ICA individuals. Magnetic resonance brain imaging revealed diminished olfactory bulbs and flattened olfactory sulci. This is the first report of a mutation in the cyclic nucleotide-gated gene CNGA2 and supports the critical role of this gene in human olfaction.

show abstract

“…Genetic studies of CGA are very limited due to its low prevalence in the human population. And although no causative mutation was found for this phenotype, all familial cases described are consistent with an autosomal dominant mode of inheritance with partial penetrance [57][58][59]. The most well studied group of syndromic CGA is related to Kallmann syndrome.…”

Section: General Anosmiamentioning

confidence: 93%

Signaling in the Chemosensory Systems

Menashe

Lancet

2006

Cell. Mol. Life Sci.

View full text Add to dashboard Cite

Of all five senses, olfaction is the most complex molecular mechanism, as it comprises hundreds of receptor proteins enabling it to detect and discriminate thousands of odorants. Until lately, the understanding of this highly sophisticated sensory neuronal pathway has been rather sketchy. The sequencing of the human genome and the consequent advent of new genomic tools have opened new opportunities to better understand this multifaceted biological system. Here, we present the relevant progresses made in the last decade and highlight the possible genetic mechanisms of human olfactory variability.

show abstract

Isolated congenital anosmia locus maps to 18p11.23-q12.2

Cited by 22 publications

References 13 publications

PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency

PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency

The first mutation in CNGA2 in two brothers with anosmia

Signaling in the Chemosensory Systems

Contact Info

Product

Resources

About