Prenatal sonographic diagnosis of X‐linked hypohidrotic ectodermal dysplasia: An unusual case

Li, Tiangang; Ma, Ben; Tie, Hong-Xia; Zhang, Qinghua; Shen, Hao; Guan, Chong-Li

doi:10.1002/jcu.23020

Cited by 3 publications

(3 citation statements)

References 8 publications

(8 reference statements)

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“…Probands 2 and 3 showed a similar phenotype with sparse hair, dry skin, and frequent fever. As early as the fetus stage, alveolar bone dysplasia was identified in proband 3 by sonographic examination, indicating thinner upper alveolar bones and fewer tooth germs compared to normal fetus, as we reported previously ( Li et al, 2021 ). After birth, his skin appeared abnormally dry and wrinkled ( Figure 3B ) and his upper alveolar bones were thinner compared with normal.…”

Section: Resultssupporting

confidence: 80%

Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics

et al. 2022

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Background: Ectodysplasin A (EDA) variations are major pathogenic factors for hypohidrotic ectodermal dysplasia (HED), the most common form of ectodermal dysplasia (ED), characterized by hypotrichosis, hypohidrosis, hypodontia, and other oral features.Methods: Molecular genetic defects in three HED families were detected by whole-exome sequencing and confirmed by Sanger sequencing or multiplex ligation-dependent probe amplification. The effect of splicing variant was further verified by EDA minigene in vitro analysis. De novo deletion was confirmed by chromosomal microarray analysis.Results: Three variants (c.396 + 1 G > C, c.171-173 del GTT, and exon 1 deletion) were identified, all affecting exon 1 of the EDA gene. Variants c.396 + 1 G > C and c.171-173 del GTT were first identified. Minigene analysis of the splicing variant (c.396 + 1 G > C) displayed a prolonged EDA-A1 transcript containing extra 699 bp at the start of intron 1, representing a functional cryptic splice site formation in vitro. Combining the results of chromosomal microarray analysis and whole-exome sequencing, the deletion variant was over 87 kb. Three variants were predicted to affect protein function to differing degrees, and were responsible for X-linked HED with varying phenotype.Conclusion: Investigating the clinical and molecular characteristics of these variations broadens our understanding of EDA gene variants, supporting clinical diagnosis, genetic counseling, and prenatal diagnosis of HED.

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Section: Resultssupporting

confidence: 80%

Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics

et al. 2022

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“…(x) (p22q13) Y Zhonghua Yi Xue Za Zhi Article [ 8 ] 2013 Male ➖ EDA p.G11R Y Zhonghua Yi Xue Yi Chuan Xue Za Zhi Article [ 9 ] 2003 Male a small nose and thick, everted upper and lower lips. ➖ Y J Ultrasound Med Article [ 10 ] 2021 Male thinner upper alveolar bones and fewer tooth germs. EDA Xq13.1 N J Clin Ultrasound …”

Section: Introductionmentioning

confidence: 99%

Prenatal ultrasound findings of ectodermal dysplasia: a case report

Liang

Zhou

Tian³

et al. 2022

BMC Pregnancy Childbirth

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Background Ectodermal Dysplasia is a diverse group of inherited disorders characterized by a congenital defect in two or more ectodermal structures. Due to a fairly low incidence, to the best of our knowledge there are few clues that can assist in making an effective prenatal ultrasound diagnosis. Currently, the prenatal diagnosis of ectodermal dysplasia depends on a fetal genetic test combined with the family history. In this case report, we present a fetal case of ectodermal dysplasia with a remarkable prenatal ultrasound image, genetic testing, family history, and relevant exams of the stillbirth. Case presentation A multipara with a 22-week singleton male pregnancy undergoing a fetal ultrasound examination. The image showed a hypoplastic maxilla and mandible. Subsequently, the ectodermal dysplasia was defined using a family history and genetic testing. The skin pathology from the aborted fetus demonstrated a hypohidrotic type. The computed tomography (CT) reconstruction after induced labor confirmed the prenatal ultrasound findings of the maxilla and mandible. Conclusions This case suggested that prenatal ultrasound may provide a valuable clue of ectodermal dysplasia. The diagnosis can be established using further prenatal genetic testing and a family history.

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“…In their single-center study, Li and colleagues [ 10 ], tried to develop an equation for estimating IPP among adults on PD. The authors ended with two different equations for estimating IPP with different IPV: with 2 L (eIPP[cmH2O] = Waist[cm] * 0.193 – Height from decubitus plane to midaxillary line * 0.907 + 8.613) and with 1.5 L (eIPP[cmH2O] = Waist[cm] * 0.218 – Height from decubitus plane to midaxillary line * 0.850 + 4.127), which could raise some concerns about the validity of the different equations.…”

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confidence: 99%

Intraperitoneal pressure in peritoneal dialysis patients: a need for treatment individualization

Ferreira

2023

Clinical Kidney Journal

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High-quality and goal-directed peritoneal dialysis (PD) prescription should be provided to all PD patients. Prioritizing patients' goals is necessary for their quality of life, as it is assessment of volume and nutritional status, anemia and mineral and bone management, or small-solute removal. To optimize the removal of small solutes, and depending on membrane characteristics, the increase in concentration gradient difference or the increase in volume (recruitment of all peritoneal capacities) can be performed. Nevertheless, intraperitoneal volume should be tailored by measuring the intraperitoneal pressure (IPP) to avoid PD associated mechanical complications. In this editorial, a brief review on how IPP can be measured, and its implications are noted.

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Prenatal sonographic diagnosis of X‐linked hypohidrotic ectodermal dysplasia: An unusual case

Cited by 3 publications

References 8 publications

Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics

Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics

Prenatal ultrasound findings of ectodermal dysplasia: a case report

Intraperitoneal pressure in peritoneal dialysis patients: a need for treatment individualization

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