Fanconi Anemia and Laron Syndrome

Castilla‐Cortázar, Inma; Ita, Julieta Rodríguez De; Aguirre, Gabriel A.; Castorena‐Torres, Fabiola; Ortiz-Urbina, Jesús; García‐Magariño, Mariano; Garza, Rocío García de la; Olachea, Carlos Díaz; Leal, Martha Irma Elizondo

doi:10.1016/j.amjms.2017.02.001

Cited by 6 publications

(5 citation statements)

References 43 publications

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“…For Latin Americans, the E180 polymorphism is the most common due to a mass migration to Ecuador[21]; nevertheless, the E180 polymorphism has been found in Brazil, Argentina, and Mexican-descendants in the United States[4]. Recently, in Monterrey, Mexico, three patients were identified with LS, and the key mutations that were identified as possible causes were not of GHR[5-7]. Here, we demonstrate that the LS in the parents was associated with the del5-6 of GHR.…”

Section: Discussionmentioning

confidence: 99%

“…The prevalence of Laron syndrome (LS), first described in 1966[1] as insensitivity to growth hormone (GH) due to mutations in the extracellular domain of the GH receptor (GHR)[2,3], is not commonly diagnosed in Latin America. Moreover, in Mexico, there are less than 10 documented cases of LS[4-7]. LS is typically found among the Jewish community[8], but with a very low prevalence.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report

Neumann¹,

Alcántara-Ortigoza

Ángel

et al. 2019

WJCC

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BACKGROUNDLaron syndrome (LS) is an autosomal recessive hereditary condition affecting only 1/1000000 births. The cause is associated with mutations in the growth hormone (GH) receptor (GHR), leading to GH insensitivity. LS patients typically present with severe growth retardation, obesity, and abnormal sexual maturation. Currently, LS diagnosis is performed post-delivery. Therefore, we assessed the efficiency of Pre-implantation Genetic Testing (PGT) coupled with monoplex-polymerase chain reaction (PCR) technology for detecting this monogenic disease in embryos from a couple confirmed as LS heterozygous carriersCASE SUMMARYThe couple LS-carriers were confirmed by the presence of a first child born with LS. The couple underwent a standard in vitro fertilization (IVF) protocol. DNA was collected from trophectoderm cells from day 5 embryos. Whole genome amplification (WGA) was performed using a Sureplex DNA Amplification System and analyzed by PCR, targeting the deletion of the exons 5 and 6 in the GHR gene as well as PGT by Next-generation Sequencing (Illumina). Eleven embryos were collected and analyzed. 27.3% were the wild type for GHR, 45.5% were heterozygotes, and 18.2% homozygous mutants. One embryo yielded no results. Three 2-embryos transfers were performed; 2 normal homozygous and four heterozygous carriers were selected for transfer. The first two transfers were unsuccessful, whereas the final transfer with two heterozygous embryos resulted in clinical pregnancy. The genomic composition of the fetus was verified, applying the same techniques using amniocytes, extracted after 21 wk of the ongoing pregnancy. The fetus was confirmed as GHR deletion in exon 5-6, carrier. A non-affected baby was born.CONCLUSIONHere, we present a case demonstrating that using WGA as a template in addition to PCR targeting specific gene regions, exons 5 and 6 on the GHR gene, could identify LS carrier embryos. This provides evidence that WGA and PCR serve as an excellent tool to detect this specific monogenic disease in IVF embryos, thus allowing selection of candidate embryos for transfer successfully when a specific inherited genetic mutation/disease is suspected.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report

Neumann¹,

Alcántara-Ortigoza

Ángel

et al. 2019

WJCC

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“…This is the case in Mexico, where our group has found patients with de visu diagnosis. Some of them are still being confirmed, while others have been published .…”

Section: Discussionmentioning

confidence: 97%

Mexican case report of a never‐treated Laron syndrome patient evolving to metabolic syndrome, type 2 diabetes, and stroke

Castilla‐Cortázar

Femat-Roldán

Rodríguez-Rivera

et al. 2017

Clinical Case Reports

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“…During development, the establishment of a proper intrauterine environment for fetal development is mandatory, a situation where IGF-1 plays a key role. To date, several case reports in women have shown that partial IGF-1 deficiency might be involved in alterations in the reproductive system and the attainment and maintenance of pregnancy [ 38 , 39 , 40 ], and also its implications in metabolism, which could alter the metabolism of xenobiotic substances such as ethanol. For this reason, the development of an animal model that resembles the physiological alterations due to partial IGF-1 deficiency is crucial for studying the mechanisms and molecular targets involved in its development, especially in critical periods such as pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Effect of Ethanol Consumption on the Placenta and Liver of Partially IGF-1-Deficient Mice: The Role of Metabolism via CYP2E1 and the Antioxidant Enzyme System

Martín-Estal

Fajardo-Ramírez

León

et al. 2022

Biology

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Ethanol use during pregnancy is a risk factor for developing adverse outcomes. Its metabolism by cytochrome P450 2E1 (CYP2E1) produces radical oxygen species (ROS), promoting cellular injury and apoptosis. To date, no studies have been conducted to elucidate the teratogenic effects due to both IGF-1 deficiency and ethanol consumption in mice placentas. The aim of this study is to determine the effect of ethanol consumption on the placenta and liver of partially IGF-1-deficient mice, the role of metabolism via CYP2E1, and the antioxidant enzyme system. Heterozygous (HZ, Igf1+/−) pregnant female mice were given water or 10% ethanol. Wild-type (WT, Igf1+/+) female mice were used as controls. At gestational day 19, pregnant dams were euthanized, and maternal liver and placentas were collected. Pregnant HZ dams were smaller than controls, and this effect was higher due to ethanol consumption. Cyp2e1 gene was overexpressed in the liver of HZ pregnant dams exposed to ethanol; at the protein level, CYP2E1 is reduced in placentas from all genotypes. The antioxidant enzymatic system was altered by ethanol consumption in both the maternal liver and placenta. The results in this work hint that IGF-1 is involved in intrauterine development because its deficiency exacerbates ethanol’s effects on both metabolism and the placenta.

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Fanconi Anemia and Laron Syndrome

Cited by 6 publications

References 43 publications

Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report

Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report

Mexican case report of a never‐treated Laron syndrome patient evolving to metabolic syndrome, type 2 diabetes, and stroke

Effect of Ethanol Consumption on the Placenta and Liver of Partially IGF-1-Deficient Mice: The Role of Metabolism via CYP2E1 and the Antioxidant Enzyme System

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