Unique maternal deletion of 15q in a patient with some symptoms of Prader‐Willi syndrome

Ninomiya, Shinsuke; Yokoyama, Yuji; Kawakami, Masaki; Une, Tomoka; Maruyama, Hidehiko; Morishima, Tsuneo

doi:10.1111/j.1442-200x.2005.02116.x

Cited by 3 publications

(3 citation statements)

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“…Patients with this chromosomal abnormality have mild to moderate intellectual disability and mild dysmorphic features of the hands and face 73,74. Frequently, carriers of the deletion develop seizure disorders and autistic traits 75–77.…”

Section: Chromosomal Disorders With Symptoms Of Bipolar Disordermentioning

confidence: 99%

Genetics of bipolar disorder

Kerner¹

2014

TACG

100

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Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs) and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are currently not fulfilled for common genomic variants in psychiatric disorders. Further work is clearly needed before genetic testing for common variants in psychiatric disorders should be established.

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Section: Chromosomal Disorders With Symptoms Of Bipolar Disordermentioning

confidence: 99%

Genetics of bipolar disorder

Kerner¹

2014

TACG

100

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“…Patients with this chromosomal abnormality have mild to moderate intellectual disability and mild dysmorphic features of the hands and face. 73,74 Frequently, carriers of the deletion develop seizure disorders and autistic traits. [75][76][77] The clinical presentation of individuals with the 15q13.3 deletion syndrome is highly variable, ranging from asymptomatic to severe intellectual impairment.…”

Section: Chromosome 15q133 Deletion Syndrome (Mim #612001)mentioning

confidence: 99%

Genetics of bipolar disorder

Escamilla

Zavala

2008

Dialogues in Clinical Neuroscience

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Bipolar disorder especially the most severe type (type I), has a strong genetic component. Family studies suggest that a small number of genes of modest effect are involved in this disorder. Family-based studies have identified a number of chromosomal regions linked to bipolar disorder, and progress is currently being made in identifying positional candidate genes within those regions. A number of candidate genes have also shown evidence of association with bipolar disorder, and genome-wide association studies are now under way, using dense genetic maps. Replication studies in larger or combined datasets are needed to definitively assign a role for specific genes in this disorder. This review covers our current knowledge of the genetics of bipolar disorder, and provides a commentary on current approaches used to identify the genes involved in this complex behavioral disorder.

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“…Even a maternal deletion encompassing only the ATP10C gene has been associated with PWS-like symptoms (Ninomiya et al 2005). In contrast, id015 was found to over-express both UBE3A and ATP10C, the two paternally imprinted genes associated with AS.…”

Section: Discussionmentioning

confidence: 99%

Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter

et al. 2007

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Prader-Willi syndrome (PWS) is a neurodevelopmental disorder associated with abnormalities of chromosome 15q11q13. The majority of cases result either from a deletion approximately 4 Mb in size, affecting chromosome 15 of paternal origin or from UPD(15)mat; these account for~70 and~20-25% of PWS cases, respectively. In the remaining 3-5% of PWS cases where neither the deletion nor UPD is detectable, PWS is thought to be caused either by a defect in the imprinting centre resulting in a failure to reset the paternally inherited chromosome 15 derived from the paternal grandmother or, very occasionally, from a balanced translocation involving a breakpoint in 15q11q13. Nine probands with a firm clinical diagnosis of PWS but who had neither a typical deletion in the PWS region nor UPD(15)mat were investigated for inactivating mutations in 11 genes located in the PWS region, including SNURF and SNRPN, which are associated with the imprinting centre. Other genes studied for mutations included MKRN3, NDN, IPW, HBII-85, HBII-13, HBII-436, HBII-438a, PAR1 and PAR5. A possibly inactivating mutation in the SNRPN minimal promoter region was identified. No other inactivating mutations were found in the remainder of our panel of PWS subjects with atypical genetics. Expression levels of several of the candidate genes for PWS were also investigated in this series of probands. The results indicate that PWS may result from a stochastic partial inactivation of important genes.

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Unique maternal deletion of 15q in a patient with some symptoms of Prader‐Willi syndrome

Abstract: The result of maternal small region deletion in this patient is different from the typical PWS with paternal chromosome deletion and it suggests that nearby the deleted region there exists a gene (genes) which is not imprinted but needs biallelic expression.

Cited by 3 publications

References 12 publications

Genetics of bipolar disorder

Genetics of bipolar disorder

Genetics of bipolar disorder

Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter

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