Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

Selvam, Pavalan; Singh, Shekhar; Jain, Angita; Atwal, Herjot; Atwal, Paldeep S.

doi:10.1055/s-0039-1698446

Cited by 2 publications

(1 citation statement)

References 22 publications

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“…In addition, some genes have also been found to affect the function of the nervous system. For example, COL11A2 is related to genetic hearing loss and deafness, which is also consistent with some of the phenotypes in our nIHH patients 20,21 . In the enrichment analysis of three sets of intersecting data, three pathways were enriched in ve patients.…”

Section: Discussionsupporting

confidence: 89%

Whole-exome sequencing analysis of idiopathic hypogonadotropic hypogonadism: comparison of varicocele and non-obstructive azoospermia

Dai

Jin

et al. 2023

Preprint

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Background As a rare disease leading to male infertility, A has strong heterogeneity of clinical phenotype and gene mutation. At present, there is no effective diagnosis and treatment method for this disease, and the research on its pathogenesis is not exhaustive Objectives To explore the possible new pathogenic gene of idiopathic hypogonadotrophic hypogonadism and the pathological mechanism affecting its occurrence. Patients and methods: We performed a whole-exome sequencing on 9 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH), 19 varicocele patients with weak sperm, oligospermia or azoospermia and 5 patients with simple nonobstructive azoospermia and carried out comparative analysis, channel analysis, etc. Results After preliminary sequencing screening, 309–431 genes harbouring variants, including SNPs and indels, were predicted to be harmful per single patient in each group. In genetic variations of nIHH patients’ analysis, variants were detected in 10 loci and nine genes in nine patients. And in co-analysis of the three patient groups, nine nIHH patients, 19 VC patients, and five SN patients shared 116 variants, with 28 variant-harbouring genes detected in five or more patients. After that, we found that many genes crossed among groups and selected the highest number of 17 genes for analysis. Conclusion We found that the NEFH, CCDC177 and PCLO genes and the Gene Ontology pathways GO:0051301: cell division and GO:0090066: regulation of anatomical structure size may be key factors in the pathogenic mechanism of IHH. Our results suggest the pathogenic mechanism of IHH is not limited to the central nervous system effects of GnRH but may involve other heterogeneous pathogenic genetic variants that affect peripheral organs.

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Section: Discussionsupporting

confidence: 89%

Whole-exome sequencing analysis of idiopathic hypogonadotropic hypogonadism: comparison of varicocele and non-obstructive azoospermia

Dai

Jin

et al. 2023

Preprint

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Whole-Exome Sequencing Analysis of Idiopathic Hypogonadotropic Hypogonadism: Comparison of Varicocele and Nonobstructive Azoospermia

Ma,

Dai,

Jin

et al. 2023

Reprod. Sci.

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As a rare disease leading to male infertility, idiopathic hypogonadotropic hypogonadism (IHH) has strong heterogeneity of clinical phenotype and gene mutation. At present, there is no effective diagnosis and treatment method for this disease. This study is to explore the possible new pathogenic gene of idiopathic hypogonadotrophic hypogonadism and the pathological mechanism affecting its occurrence. We performed a whole-exome sequencing on 9 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH), 19 varicocele patients with asthenospermia, oligospermia, or azoospermia, 5 patients with simple nonobstructive azoospermia, and 13 normal healthy adult males and carried out comparative analysis, channel analysis, etc. After preliminary sequencing screening, 309–431 genes harbouring variants, including SNPs and indels, were predicted to be harmful per single patient in each group. In genetic variations of nIHH patients’ analysis, variants were detected in 10 loci and nine genes in nine patients. And in co-analysis of the three patient groups, nine nIHH patients, 19 VC patients, and five SN patients shared 116 variants, with 28 variant-harbouring genes detected in five or more patients. We found that the NEFH, CCDC177, and PCLO genes and the Gene Ontology pathways GO:0051301: cell division and GO:0090066: regulation of anatomical structure size may be key factors in the pathogenic mechanism of IHH. Our results suggest that the pathogenic mechanism of IHH is not limited to the central nervous system effects of GnRH but may involve other heterogeneous pathogenic genetic variants that affect peripheral organs.

show abstract

Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

Cited by 2 publications

References 22 publications

Whole-exome sequencing analysis of idiopathic hypogonadotropic hypogonadism: comparison of varicocele and non-obstructive azoospermia

Whole-exome sequencing analysis of idiopathic hypogonadotropic hypogonadism: comparison of varicocele and non-obstructive azoospermia

Whole-Exome Sequencing Analysis of Idiopathic Hypogonadotropic Hypogonadism: Comparison of Varicocele and Nonobstructive Azoospermia

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