Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

Tamar Harel; Ephrat Levy-Lahad; Muhannad Daana; Hadas Mechoulam; Smadar Horowitz-Cederboim; Michal Gur; Vardiella Meiner; Orly Elpeleg

doi:10.1038/s41431-019-0380-y

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

Tamar Harel^*
, Ephrat Levy-Lahad
, Muhannad Daana
, Hadas Mechoulam
, Smadar Horowitz-Cederboim
, Michal Gur
, Vardiella Meiner
, Orly Elpeleg

^*Corresponding author for this work

Institute for Medical Research Israel-Canada (IMRIC)

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Abstract

The transforming growth factor-beta (TGFβ) signaling pathway is essential for palatogenesis and retinal development. Glycoprotein A repetitions predominant (GARP), encoded by LRRC32, is a TGFβ cell surface receptor that has been studied primarily in the context of cellular immunity. We identified a homozygous stop-gain variant in LRRC32 (c.1630C>T; p.(Arg544Ter)) in two families with developmental delay, cleft palate, and proliferative retinopathy. Garp-null mice have palate defects and die within 24 h after birth. Our study establishes LRRC32 as a candidate disease-associated gene in humans and lends further support to the role of the TGFβ pathway in palatogenesis and retinal development.

Original language	English
Pages (from-to)	1315-1319
Number of pages	5
Journal	European Journal of Human Genetics
Volume	27
Issue number	8
DOIs	https://doi.org/10.1038/s41431-019-0380-y
State	Published - 1 Aug 2019

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Publisher Copyright:
© 2019, European Society of Human Genetics.

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abstract = "The transforming growth factor-beta (TGFβ) signaling pathway is essential for palatogenesis and retinal development. Glycoprotein A repetitions predominant (GARP), encoded by LRRC32, is a TGFβ cell surface receptor that has been studied primarily in the context of cellular immunity. We identified a homozygous stop-gain variant in LRRC32 (c.1630C>T; p.(Arg544Ter)) in two families with developmental delay, cleft palate, and proliferative retinopathy. Garp-null mice have palate defects and die within 24 h after birth. Our study establishes LRRC32 as a candidate disease-associated gene in humans and lends further support to the role of the TGFβ pathway in palatogenesis and retinal development.",

author = "Tamar Harel and Ephrat Levy-Lahad and Muhannad Daana and Hadas Mechoulam and Smadar Horowitz-Cederboim and Michal Gur and Vardiella Meiner and Orly Elpeleg",

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AU - Harel, Tamar

AU - Levy-Lahad, Ephrat

AU - Daana, Muhannad

AU - Mechoulam, Hadas

AU - Horowitz-Cederboim, Smadar

AU - Gur, Michal

AU - Meiner, Vardiella

AU - Elpeleg, Orly

PY - 2019/8/1

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Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

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