Holoprosencephaly (HPE) is a clinically and genetically heterogeneous disease, which can be associated with various prenatal comorbidities not always detectable on prenatal ultrasound. We report on the case of a foetus carrying a semi-lobar HPE diagnosed at ultrasound, for which a fetal autopsy and a whole exome sequencing were performed following a medical termination of pregnancy. Neuropathological examination confirmed the semi-lobar HPE and general autopsy disclosed a total pancreas agenesis. Whole exome sequencing found the missense c.1603C>T, p.(Arg535Cys), occurring in the foetus. The same variant was previously reported in 5 unrelated children. All individuals had HPE, and 4 out of 5 presented endo- and exocrine pancreatic insufficiency or total pancreas agenesis. encodes a subunit of the CCRN4-NOT complex, expressed at the early stage of embryonic development. This report is the first fetal description of the phenotype associating HPE and pancreatic agenesis linked to the recurrent missense c.1603C>T, p.(Arg535Cys). This finding strengthens the hypothesis of a specific recurrent variant associated with a particular phenotype of HPE and pancreas agenesis. The fetal autopsy that revealed the pancreas agenesis was crucial in guiding the genetic diagnosis and enabling accurate genetic counselling.

Download full-text PDF

Source
http://dx.doi.org/10.1177/10935266221095305DOI Listing

Publication Analysis

Top Keywords

pancreas agenesis
16
fetal description
8
pancreatic agenesis
8
semi-lobar hpe
8
fetal autopsy
8
exome sequencing
8
total pancreas
8
missense c1603c>t
8
c1603c>t parg535cys
8
agenesis
6

Similar Publications

Background: Isolated microhematuria (IMH) can signal hidden glomerular disease, necessitating detailed evaluations for potential kidney donors, including kidney biopsies. The optimal strategy for deciding on kidney biopsies remains unclear. While the British Transplant Society supports dipstick analysis, KDIGO focuses solely on urine microscopy.

View Article and Find Full Text PDF

Objectives: Inflammatory bowel diseases (IBD) are chronic, immune-mediated disorders of the gastrointestinal system. Pancreas can be affected in IBD patients with a wide array of clinical conditions including acu-te pancreatitis, abnormalities of pancreatic duct and pancreatic insufficiency. Pancreatic steatosis (PS) is an important but often overlooked pathology of pancreas.

View Article and Find Full Text PDF

Beta cell function and global glucose metabolism are impaired in Dp(16)1Yey mouse model of Down syndrome.

Diabetes Obes Metab

January 2025

BFA, UMR 8251, CNRS, Team « Biologie et Pathologie du Pancréas Endocrine », Université Paris Cité, Paris, France.

Aims: Down syndrome (DS) or trisomy 21 is the most prevalent genetic disorder in the world. In addition to common symptoms such as intellectual disabilities and morphological abnormalities, several comorbidities are associated with DS, including metabolic dysfunction. Obesity and diabetes are more prevalent in people with DS compared with the general population.

View Article and Find Full Text PDF

Annular pancreas is a rare congenital anatomical anomaly, in which the pancreatic parenchyma surrounds the descending duodenum. Generally, annular pancreas is diagnosed on the basis of symptoms associated with complications of peptic ulcer, pancreatitis, cholelithiasis, and rarely, malignant tumors. Herein, we report an 84-year-old man for whom, during hospitalization for a urinary tract infection, pancreatic cystic lesions and an annular pancreas were noted incidentally on computed tomography.

View Article and Find Full Text PDF

Refractory small cell lung cancer with pancreatic metastasis: A case report.

Medicine (Baltimore)

January 2025

Department of Respiratory and Critical Care Medicine, The Affiliated Hospital of Inner Mongolia Medical University, Inner Mongolia, Hohhot, China.

Rationale: The occurrence of refractory small cell lung cancer (rSCLC) with pancreatic metastasis is a relatively rare clinical condition, which is typically accompanied by a poor prognosis and rapid disease progression.

Patient Concerns: A 65-year-old male farmer from China was diagnosed with limited-stage small cell lung cancer (SCLC) 8 months ago. Following 6 cycles of EP chemotherapy, the patient's tumor response showed partial relief.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!