A toddler with a novel LEPR mutation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-02-18

AUTHORS

Coşkun Armağan, Ceren Yılmaz, Altuğ Koç, Ayhan Abacı, Ayfer Ülgenalp, Ece Böber, Derya Erçal, Korcan Demir

ABSTRACT

There are numerous causes, such as environmental factors, medications, endocrine disorders, and genetic factors, that can lead to obesity. However, severe early-onset obesity with abnormal feeding behavior, mental retardation, dysmorphic features, organ-specific developmental abnormalities, and endocrine disorders suggest a genetic etiology. Mutations in genes related to the leptin-melanocortin pathway play a key role in genetic obesity. This pathway controls hypothalamic regulation of food intake. A few cases have been reported to have mutations in leptin (LEP) or leptin receptor (LEPR) genes. The cases had severe early-onset obesity, hyperphagia, and additional features, such as altered immune function, hypogonadism, and hypothyroidism. We present a 3-year-old male patient with severe early-onset obesity whose genetic analysis revealed a homozygous, novel, and pathogenic variant (c.1603+2T>C) in LEPR. More... »

PAGES

1-4

Journal

TITLE

Hormones

ISSUE

N/A

VOLUME

N/A

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s42000-019-00097-6

DOI

http://dx.doi.org/10.1007/s42000-019-00097-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112221253

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30778850


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