| Autor: |
Fatemeh Bitarafan, Mehrnoosh Khodaeian, Fatemeh Garrousi, Raziyeh Khalesi, Donya Ghazi Nader, Behnam Karimi, Reza Alibakhshi, Masoud Garshasbi |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
BMC Endocrine Disorders, Vol 23, Iss 1, Pp 1-10 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1472-6823 |
| DOI: |
10.1186/s12902-023-01388-1 |
| Popis: |
Abstract Background Human growth hormone (hGH) plays a crucial role in growth by binding to growth hormone receptor (GHR) in target cells. Binding of GH molecules to their cognate receptors triggers downstream signaling pathways leading to the transcription of several genes, including insulin-like growth factor (IGF)-1. Pathogenic variants in the GHR gene can result in structural and functional defects in the GHR protein, leading to Laron Syndrome (LS) with the primary clinical manifestation of short stature. So far, around 100 GHR variants have been reported, mostly biallelic, as causing LS. Case presentation We report on three siblings from an Iranian consanguineous family who presented with dwarfism. Whole-exome sequencing (WES) was performed on the proband, revealing a novel homozygous missense variant in the GHR gene (NM_000163.5; c.610 T > A, p.(Trp204Arg)) classified as a likely pathogenic variant according to the recommendation of the American College of Medical Genetics (ACMG). Co-segregation analysis was investigated using Sanger sequencing. Conclusions To date, approximately 400–500 LS cases with GHR biallelic variants, out of them 10 patients originating from Iran, have been described in the literature. Given the high rate of consanguineous marriages in the Iranian population, the frequency of LS is expected to be higher, which might be explained by undiagnosed cases. Early diagnosis of LS is very important, as treatment is available for this condition. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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