Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome

Senthilraja, Manickavasagam; Chapla, Aaron; Jebasingh, Felix; Naik, Dukhabhandhu; Paul, Thomas; Thomas, Nihal

doi:10.1155/2019/4218514

Cited by 2 publications

(2 citation statements)

References 11 publications

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“…Approximately 5–7% of patients with KS had a causative ANOS1 mutation. Mutations in ANOS1 are typically either nonsense mutations, frame shift mutations, or large gene deletions ( Senthilraja et al, 2019 ). ANOS1 contains 14 exons and encodes the extracellular adhesion protein amosmin-1, which mediates adhesion and axonal migration of GnRH neurons ( Soussi-Yanicostas et al, 2002 ; Bribián et al, 2006 ; Gianola et al, 2009 ; Yanicostas et al, 2009 ; de Castro et al, 2014 , 2017 ; García-González et al, 2016 ; Murcia-Belmonte et al, 2016 ; Stamou and Georgopoulos, 2018 ).…”

Section: Discussionmentioning

confidence: 99%

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus

Mao

Wang

et al. 2020

Front. Genet.

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Background: A large deletion in Xp22.3 can result in contiguous gene syndromes, including X-linked ichthyosis (XLI) and Kallmann syndrome (KS), presenting with short stature, chondrodysplasia punctata, intellectual disability, and strabismus. XLI and KS are caused by the deletion of STS and ANOS1, respectively. Method: Two KS patients with XLI were screened to identify possible pathogenic mutations using whole exome sequencing. The clinical characteristics, molecular genetics, treatment outcomes, and genotype-phenotype association for each patient were analyzed. Results: We identified a novel 3,923 kb deletion within the Xp22.31 region (chrX: 5810838-9733877) containing STS, ANOS1, GPR143, NLGN4X, VCX-A, PUDP, and PNPLA4 in patient 1, who presented with KS, XLI, obesity, hyperlipidemia, and strabismus. We identified a novel 5,807 kb deletion within the Xp22.31-p22.33 regions (chrX: 2700083-8507807) containing STS, ANOS1, and other 24 genes in patient 2, who presented with KS, XLI, obesity, and strabismus. No developmental delay, abnormal speech development, or autistic behavior were noticed in either patient. Conclusion: We identified two novel microdeletions in the X chromosome leading to KS and XLI. These findings contribute to the understanding of the molecular mechanisms that drive contiguous gene syndromes. Our research confirmed that the Kallmann-Ichthyosis phenotype is caused by microdeletions at the chromosome level.

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Section: Discussionmentioning

confidence: 99%

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus

Mao

Wang

et al. 2020

Front. Genet.

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“…Данные гены расположены на Х-хромосоме (Xp22.3): ген KAL1 проксимальнее гена STS, а его 3’-конец обращен к теломере. Обнаружить микроделецию короткого участка Х-хромосомы с помощью метода секвенирования нового поколения, как правило, не удается [ 28 ]. Могут потребоваться полноэкзомное секвенирование [ 29 ] или проведение микроматричного анализа [ 30 ][ 31 ].…”

Section: мутации в наиболее часто встречающихся генах: корреляция ген...unclassified

Molecular genetics and phenotypic features of congenital isolated hypogonadotropic hypogonadism

Kokoreva

Чугунов

Безлепкина

2021

Probl Endokrinol (Mosk)

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Congenital isolated hypogonadotropic hypogonadism includes a group of diseases related to the defects of secretion and action of gonadotropin-releasing hormone (GNRH) and gonadotropins. In a half of cases congenital hypogonadism is associated with an impaired sense of smell. It’s named Kallmann syndrome. Now 40 genes are known to be associated with function of hypothalamus pituitary gland and gonads. Phenotypic features of hypogonadism and therapy effectiveness are related to different molecular defects. However clinical signs may vary even within the same family with the same molecular genetic defect. Genotype phenotype correlation in patients with congenital malformations prioritizes the search for mutations in candidate genes. There are data of significant contribution of oligogenicity into the phenotype of the disease are presented in the review. Moreover, an issue of current isolated hypogonadotropic hypogonadism definition and classification revision is raised in the review due to hypogonadotropic hypogonadism development while there are mutations in genes not associated with GNRH neurons secretion and function.

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Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome

Cited by 2 publications

References 11 publications

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus

Molecular genetics and phenotypic features of congenital isolated hypogonadotropic hypogonadism

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