Publications by authors named "M Holder-Espinasse"
Objective: Prenatal detection and genetic diagnosis of congenital upper limb anomalies is particularly challenging due to both anatomical and technological factors. Hereby, we present a cross-sectional description of clinical and genetic findings in a 188-patient cohort.
Method: In this retrospective study, we present 188 cases with prenatally or postnatally detected upper limb anomalies, either isolated, associated with other anomalies, or syndromic.
CHIME syndrome is a variable condition characterized by ichthyosiform dermatosis, accompanied by intellectual disability, ocular colobomas, ear anomalies, and heart defects. It is an autosomal recessive condition caused by biallelic pathogenic variants in the PIGL gene. Until now, all reports of individuals affected with CHIME syndrome showed the PIGL c.
View Article and Find Full Text PDFPrenatal detection of copy number variants.
Best Pract Res Clin Obstet Gynaecol
December 2024
Article Synopsis
- Prenatal detection of copy number variants (CNVs) aids in diagnosing fetal genetic abnormalities and enhances early intervention in prenatal care.
- * Various techniques such as SNP arrays, CGH arrays, NIPT, WES, and WGS are used for CNV detection, each with unique advantages and limitations.
- * Accurate classification and interpretation of CNVs are critical for effective clinical management and addressing genetic counseling challenges, especially for variants with uncertain clinical significance.
Article Synopsis
- Two patients of East African descent have been identified with a novel homozygous variant in the parathyroid hormone receptor type 1 (PTH1R), which is linked to Eiken syndrome features such as brachydactyly and skeletal abnormalities.
- Both patients showed parathyroid hormone resistance, resulting in low calcium and high phosphate levels, which initially pointed to pseudohypoparathyroidism, yet genetic testing confirmed a specific PTH1R mutation.
- Functional analysis revealed that both PTH1R variants caused increased basal cAMP signaling and reduced responsiveness to PTH and PTH-related peptide, indicating a disruption in PTH1R signaling pathways associated with their clinical symptoms.