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ey0021.6-7 | Clinical and Molecular Insights into SF1 Deficiency | ESPEYB21

6.7. Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development

GF Del Gobbo , X Wang , M Couse , L Mackay , C Goldsmith , AE Marshall , Y Liang , C Lambert , S Zhang , H Dhillon , C Fanslow , WJ Rowell , Canada Consortium Care4Rare , CR Marshall , KD Kernohan , KM Boycott

Brief Summary: This study performed long-read genome sequencing (lr-GS) using PacBio HiFi on several members of a four-generation family presenting with autosomal dominant (AD) 46,XY differences of sexual development (DSD). This family had undergone a lengthy molecular diagnostic process with no conclusive results. Lr-GS offers enhanced mapping capabilities in highly repetitive, homologous, and low-complexity regions, providing better assessment of structural variations and co...

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ey0020.1-8 | Genetics | ESPEYB20

1.8. The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted NGS

L Levaillant , N Bouhours-Nouet , F Illouz , JA Jager , A Bachelot , P Barat , S Baron , C Bensignor , AB De La Perriere , YB Djellas , M Caillot , E Caldagues , MN Campas , M Caquard , A Cartault , J Cheignon , A Decrequy , B Delemer , K Dieckmann , A Donzeau , E Doye , M Fradin , M Gaudilliere , F Gatelais , M Gorce , I Hazart , N Houcinat , L Houdon , M Ister-Salome , L Jozwiak , P Jeannoel , F Labarthe , D Lacombe , AS Lambert , C Lefevre , B Leheup , C Leroy , B Maisonneuve , I Marchand , E Marquant , M Muszlak , L Pantalone , S Pochelu , C Quelin , C Radet , P Renoult-Pierre , R Reynaud , S Rouleau , C Teinturier , J Thevenon , C Turlotte , A Valle , M Vierge , C Villanueva , A Ziegler , X Dieu , N Bouzamondo , P Rodien , D Prunier-Mirebeau , R Coutant

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

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ESPE Yearbook of Paediatric Endocrinology

6.7. Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development

1.8. The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted NGS

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