The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.

Abstract

OBJECTIVES:

Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal protein intolerance to severe multisystemic involvement. We report a case diagnosed to have LPI using a Next Generation Sequencing (NGS) panel and evaluate the utility of reverse phenotyping.

CASE PRESENTATION:

A fifteen-year-old-boy with an initial diagnosis of osteogenesis imperfecta, was referred due to a number of atypical findings accompanying to osteoporosis such as splenomegaly and bicytopenia. A NGS panel (TruSight One Sequencing Panel) was performed and a novel homozygous mutation of c.257G>A (p.Gly86Glu) in the SLC7A7 gene (NM_001126106.2), responsible for LPI, was detected. The diagnosis was confirmed via reverse phenotyping.

CONCLUSIONS:

Reverse phenotyping using a multigene panel shortens the diagnostic process.

• Authors: Enise Avci Durmusalioglu, Esra Isik, Durdugul Ayyildiz Emecen, Damla Goksen, Samim Ozen, Huseyin Onay, Melis Kose, Tahir Atik, Sukran Darcan, Ozgur Cogulu, Ferda Ozkinay
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 34 Issue 7 Pg. 957-960 (Jul 27 2021) ISSN: 2191-0251 [Electronic] Germany
• PMID: 33823103 (Publication Type: Case Reports)
• Copyright: © 2021 Walter de Gruyter GmbH, Berlin/Boston.

Chemical References

• Amino Acid Transport System y+L
• SLC7A7 protein, human

Topics

• Adolescent
• Amino Acid Metabolism, Inborn Errors (complications, genetics)
• Amino Acid Transport System y+L (genetics)
• High-Throughput Nucleotide Sequencing
• Humans
• Male
• Osteogenesis Imperfecta (genetics)
• Osteoporosis (etiology)
• Phenotype