ESPEYB17 1. Pituitary and Neuroendocrinology Update on the Genetics of Hypopituitarism (4 abstracts)
1.3. Mutations in LAMB2 are associated with albuminuria and optic nerve hypoplasia with hypopituitarism
Mona Tahoun , Jennifer C Chandler , Emma Ashton , Scott Haston , Athia Hannan , Ji Soo Kim , Felipe D’Arco , D Bockenhauer , G Anderson , Meei-Hua Lin , Salah Marzouk , Marwa H Saied , Jeffrey H Miner , Mehul T Dattani & Aoife M Waters
To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3). pii: dgz216. doi: 10.1210/clinem/dgz216. PMID: 31769495.
Septo-optic dysplasia (SOD) involves a combination of midline brain defects, pituitary hormone deficiency, and optical nerve hypoplasia. The etiology of SOD is multifaceted; genetic factors are known to play a role, yet the vast majority of SOD patients remain without molecular genetic diagnosis. Laminins are heterotrimeric basement membrane proteins that have numerous cellular functions such as the regulation of cell differentiation and migration, adhesion and proliferation. Pierson syndrome is caused by autosomal recessive mutations in LAMB2 encoding laminin β2 and comprises of congenital nephrotic syndrome, ocular and neurologic abnormalities.
Herein, the authors describe a boy with compound heterozygous mutations in LAMB2 due to Pierson syndrome accompanied by septo-optic dysplasia (SOD) and growth hormone deficiency. The authors complement these findings by showing that lamb2 -deficient mice exhibit abnormal cellular clusters in the pituitary region. Taken together, this report adds a new gene to the rare genetic causes of SOD.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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