Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene
<p dir="ltr">Growth disorders resulting in extreme short stature (ESS) are often a result of deficiency in growth hormone (GH) released from the pituitary gland or a defective GH releasing receptor. Genetic defects in the <i>GH1</i> and <i>GHRHR </i>genes acco...
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2024
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| _version_ | 1864513510221807616 |
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| author | Basma Haris (12040355) |
| author2 | Idris Mohammed (751020) Umm Kulthum Umlai (19237174) Diksha Shirodkar (19237177) Khalid Hussain (110443) |
| author2_role | author author author author |
| author_facet | Basma Haris (12040355) Idris Mohammed (751020) Umm Kulthum Umlai (19237174) Diksha Shirodkar (19237177) Khalid Hussain (110443) |
| author_role | author |
| dc.creator.none.fl_str_mv | Basma Haris (12040355) Idris Mohammed (751020) Umm Kulthum Umlai (19237174) Diksha Shirodkar (19237177) Khalid Hussain (110443) |
| dc.date.none.fl_str_mv | 2024-05-01T00:00:00Z |
| dc.identifier.none.fl_str_mv | 10.4274/jcrpe.galenos.2022.2022-5-9 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Severe_Growth_Hormone_Deficiency_in_an_Indian_Boy_Caused_by_a_Novel_6_kb_Homozygous_Deletion_Spanning_the_GH1_Gene/26389111 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Medical biochemistry and metabolomics GH gene deletion short stature familial short stature |
| dc.title.none.fl_str_mv | Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Growth disorders resulting in extreme short stature (ESS) are often a result of deficiency in growth hormone (GH) released from the pituitary gland or a defective GH releasing receptor. Genetic defects in the <i>GH1</i> and <i>GHRHR </i>genes account for around 11.1-20% of ESS cases, resulting in a rare condition called isolated GH deficiency (IGHD). We describe the characterization of a <i>GH1 </i>genetic defect discovered in a 3-year-old male patient with ESS, developmental failure and undetectable serum levels of GH. There was a family history of short stature, with both parents being short. Whole genome sequencing of the patient DNA revealed a large, novel 6 kb homozygous deletion spanning the entire <i>GH1</i> gene in the patient. While the deletion was homozygous in the proband, it was present in the heterozygous state in the parents. Thus, we report a novel homozygous deletion including the GH1 gene leading to IGHD-type 1A associated with ESS.</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Clinical Research in Pediatric Endocrinology<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.4274/jcrpe.galenos.2022.2022-5-9" target="_blank">https://dx.doi.org/10.4274/jcrpe.galenos.2022.2022-5-9</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_c5ea32a0eb25da2aa7c4f4c9ba73f1e6 |
| identifier_str_mv | 10.4274/jcrpe.galenos.2022.2022-5-9 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/26389111 |
| publishDate | 2024 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 GeneBasma Haris (12040355)Idris Mohammed (751020)Umm Kulthum Umlai (19237174)Diksha Shirodkar (19237177)Khalid Hussain (110443)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesMedical biochemistry and metabolomicsGH gene deletionshort staturefamilial short stature<p dir="ltr">Growth disorders resulting in extreme short stature (ESS) are often a result of deficiency in growth hormone (GH) released from the pituitary gland or a defective GH releasing receptor. Genetic defects in the <i>GH1</i> and <i>GHRHR </i>genes account for around 11.1-20% of ESS cases, resulting in a rare condition called isolated GH deficiency (IGHD). We describe the characterization of a <i>GH1 </i>genetic defect discovered in a 3-year-old male patient with ESS, developmental failure and undetectable serum levels of GH. There was a family history of short stature, with both parents being short. Whole genome sequencing of the patient DNA revealed a large, novel 6 kb homozygous deletion spanning the entire <i>GH1</i> gene in the patient. While the deletion was homozygous in the proband, it was present in the heterozygous state in the parents. Thus, we report a novel homozygous deletion including the GH1 gene leading to IGHD-type 1A associated with ESS.</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Clinical Research in Pediatric Endocrinology<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.4274/jcrpe.galenos.2022.2022-5-9" target="_blank">https://dx.doi.org/10.4274/jcrpe.galenos.2022.2022-5-9</a></p>2024-05-01T00:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.4274/jcrpe.galenos.2022.2022-5-9https://figshare.com/articles/journal_contribution/Severe_Growth_Hormone_Deficiency_in_an_Indian_Boy_Caused_by_a_Novel_6_kb_Homozygous_Deletion_Spanning_the_GH1_Gene/26389111CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/263891112024-05-01T00:00:00Z |
| spellingShingle | Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene Basma Haris (12040355) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Medical biochemistry and metabolomics GH gene deletion short stature familial short stature |
| status_str | publishedVersion |
| title | Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene |
| title_full | Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene |
| title_fullStr | Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene |
| title_full_unstemmed | Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene |
| title_short | Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene |
| title_sort | Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Medical biochemistry and metabolomics GH gene deletion short stature familial short stature |