# Functional dissection of a novel causative gene for Kallmann syndrome

> **NIH NIH R03** · GEORGE WASHINGTON UNIVERSITY · 2023 · $161,500

## Abstract

Project Summary/Abstract
Kallmann syndrome (KS) is a condition characterized by delayed or absent puberty and an impaired sense of
smell. KS results from the deficiency of early development and migration of GnRH-synthesizing neurons and
olfactory nerves. Besides anosmia, there are several other associated non-reproductive features, including
midline facial, dental, and digit anomalies, hearing impairment, bimanual synkinesis, and renal abnormalities.
KS is clinically and genetically heterogeneous and not strictly a monogenic Mendelian disease. There are >25
different causal genes, each accounting for less than 10% of KS cases, that have been identified to date, yet the
genetic basis of the vast majority of KS cases remains unknown. The KS-associated genes either act alone
(monogenic) or in combination (oligogenic). However, the molecular mechanisms that modulate the oligogenic
interactions are far from being elucidated since the exact roles of some susceptibility genes in the regulation of
the GnRH/ olfactory nervous system are yet to be discovered. Therefore, molecular characterization of newly
identified KS causative genes and their associated signaling pathways is crucial for fully determining the genetic
cause of KS.
The current proposal aims to understand how Neuron-Derived Neurotrophic Factor (NDNF), a novel causative
gene for KS, modulates BMP signaling. If successful, the results will provide mechanistic insight underlying KS,
inform genetic counseling of KS, and, in the long run, contribute to a timely diagnosis and treatment to
minimize physical and psychological effects on KS patients.

## Key facts

- **NIH application ID:** 10583057
- **Project number:** 1R03HD110955-01
- **Recipient organization:** GEORGE WASHINGTON UNIVERSITY
- **Principal Investigator:** Xiaoyan Zheng
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $161,500
- **Award type:** 1
- **Project period:** 2023-09-12 → 2026-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10583057

## Citation

> US National Institutes of Health, RePORTER application 10583057, Functional dissection of a novel causative gene for Kallmann syndrome (1R03HD110955-01). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10583057. Licensed CC0.

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