Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

García-Acero, Mary; Acosta, Johanna

doi:10.1159/000479357

Cited by 22 publications

(21 citation statements)

References 25 publications

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“…Some of the differentially expressed genes have functions relating to fertility through cellular signaling and regulation of the immune system ( PLCB1, PIK3R1, EPHA3 and CD109 ) or embryonic development ( TIAM1 and SYNE1 ). Others had functions relating to cellular adhesion ( ABLIM3, CADPS, MEG3, SDK2, STC1 and STX16 ), DNA binding and repair ( AHDC1 and POLD3 ) , cellular signaling events ( DCP1A, FNIP2, PIK3R1, PKHD1, PLCB1 and NTRK2 ) and metabolism ( FHIT ) [ 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 ]. Unfortunately, some of the differentially expressed candidate gene functions are still uncharacterized (CHD9, KIAA0825, MAP6, PRKG1, RAB3C, ROBO1, UPK1B and ZCCHC14) .…”

Section: Resultsmentioning

confidence: 99%

Identification of Loci and Pathways Associated with Heifer Conception Rate in U.S. Holsteins

Galliou

Kiser

Oliver

et al. 2020

Genes

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Heifer conception rate (HCR) is defined as the percentage of inseminated heifers that become pregnant at each service. The genome-wide association analyses in this study focused on identifying the loci associated with Holstein heifer (n = 2013) conception rate at first service (HCR1) and the number of times bred (TBRD) to achieve a pregnancy. There were 348 unique loci associated (p < 5 × 10−8) with HCR1 and 615 unique loci associated (p < 5 × 10−8) with TBRD. The two phenotypes shared 302 loci, and 56 loci were validated in independent cattle populations. There were 52 transcription factor binding sites (TFBS) and 552 positional candidate genes identified in the HCR1- and TBRD-associated loci. The positional candidate genes and the TFBS associated with HCR1 and TBRD were used in the ingenuity pathway analysis (IPA). In the IPA, 11 pathways, 207 master regulators and 11 upstream regulators were associated (p < 1.23 × 10−5) with HCR1 and TBRD. The validated loci associated with both HCR1 and TBRD make good candidates for genomic selection and further investigations to elucidate the mechanisms associated with subfertility and infertility.

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Section: Resultsmentioning

confidence: 99%

Identification of Loci and Pathways Associated with Heifer Conception Rate in U.S. Holsteins

Galliou

Kiser

Oliver

et al. 2020

Genes

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“…Approximately 60 probands worldwide have now been identified through additional publication (Bosch et al, ; Garcia‐Acero & Acosta, ; Miller et al, ; Park, Kim, Jang, & Jang, ; Quintero‐Rivera et al, ), self‐referral, physician contact, and social media. XGS is, therefore, an example of a disorder where the diagnostic impact of whole‐exome sequencing, when combined with social media, has allowed families to rapidly build networks, establish support groups, and participate as stakeholders in research (Enns et al, ).…”

Section: Introductionmentioning

confidence: 99%

The phenotypic spectrum of Xia‐Gibbs syndrome

Jiang

Wangler

McGuire

et al. 2018

American J of Med Genetics Pt A

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Xia-Gibbs syndrome (XGS: OMIM # 615829) results from de novo truncating mutations within the AT-Hook DNA Binding Motif Containing 1 gene (AHDC1). To further define the phenotypic and molecular spectrum of this disorder, we established an XGS Registry and recruited patients from a worldwide pool of approximately 60 probands. Additional de novo truncating mutations were observed among 25 individuals, extending both the known number of mutation sites and the range of positions within the coding region that were sensitive to alteration. Detailed phenotypic examination of 20 of these patients via clinical records review and data collection from additional surveys showed a wider age range than previously described. Data from developmental milestones showed evidence for delayed speech and that males were more severely affected. Neuroimaging from six available patients showed an associated thinning of the corpus callosum and posterior fossa cysts. An increased risk of both scoliosis and seizures relative to the population burden was also observed. Data from a modified autism screening tool revealed that XGS shares significant overlap with autism spectrum disorders. These details of the phenotypic heterogeneity of XGS implicate specific genotype/phenotype correlations and suggest potential clinical management guidelines.

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“…Xia‐Gibbs syndrome is a recently described genetic disorder caused by heterozygous mutations in the AHDC1 gene (Bosch et al, ; García‐Acero & Acosta, ; Jiang et al, ; Xia et al, ; Yang et al, ) which encodes an AT‐hook DNA‐binding motif‐containing protein 1(Reeves & Nissen, ). So far there were been 27 patients reported with Xia‐Gibbs syndrome, most of them were Caucasians (Jiang et al, ).…”

Section: Introductionmentioning

confidence: 99%

“…They were mainly diagnosed through the identification of de novo variants in AHDC1 gene by exome sequencing. Patients with Xia‐Gibbs syndrome were typically presented with global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, micrognathia, and other mild dysmorphic features (Bosch et al, ; García‐Acero & Acosta, ; Jiang et al, ; Xia et al, ; Yang et al, ). Yet the whole spectrum of the phenotype is not well established, especially among patients with other ethnicities.…”

Section: Introductionmentioning

confidence: 99%

Two Chinese Xia‐Gibbs syndrome patients with partial growth hormone deficiency

Cheng

Tang

et al. 2019

Molec Gen & Gen Med

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Background Heterozygous mutations in the AT‐hook DNA‐binding motif containing one (AHDC1, OMIM * 615790) gene cause an autosomal dominant multisystem developmental disorder known as Xia‐Gibbs syndrome (OMIM #615829). Xia‐Gibbs syndrome typically presented with global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, micrognathia, and other mild dysmorphic features. Methods Description of the clinical materials of two Chinese boys who were diagnosed with Xia‐Gibbs syndrome based on clinical presentations and next generation sequencing. Review of clinical features and AHDC1 mutations in previously reported Xia‐Gibbs syndrome patients together with our two new patients. Results The Xia‐Gibbs syndrome patients exhibited short stature, hypotonia, global developmental delay, speech delay, simian crease, and mild dysmorphic features. Next generation sequencing revealed de novo heterozygous variants in AHDC1 gene. In addition, laboratory test revealed partial growth hormone deficiency. Both patients underwent growth hormone replacement therapy for 24 and 9 months, respectively, and exhibited good response to the treatment. Conclusion This is the first report of Xia‐Gibbs syndrome patients to be treated with growth hormone. Review of previously reported Xia‐Gibbs syndrome patient indicated that short stature is a frequent feature of this condition, but its underlying cause needs to be further investigated.

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Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

Cited by 22 publications

References 25 publications

Identification of Loci and Pathways Associated with Heifer Conception Rate in U.S. Holsteins

Identification of Loci and Pathways Associated with Heifer Conception Rate in U.S. Holsteins

The phenotypic spectrum of Xia‐Gibbs syndrome

Two Chinese Xia‐Gibbs syndrome patients with partial growth hormone deficiency

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