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Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.

Journal of human genetics - 1 Jun 2024

Farshadyeganeh Paniz, Yamada Takahiro, Ohashi Hirofumi, Nishimura Gen, Fujita Hiroki, Oishi Yuriko, Nunode Misa, Ishikawa Shuku, Murotsuki Jun, Yamashita Yuri, Ikegawa Shiro, Ogi Tomoo, Arikawa-Hirasawa Eri, Ohno Kinji

Abstract excerpt

Dyssegmental dysplasia (DD) is a severe skeletal dysplasia comprised of two subtypes: lethal Silverman-Handmaker type (DDSH) and nonlethal Rolland-Desbuquois type (DDRD). DDSH is caused by biallelic pathogenic variants in HSPG2 encoding perlecan, whereas the genetic cause of DDRD remains undetermined. Schwartz-Jampel syndrome (SJS) is also caused by biallelic pathogenic variants in HSPG2 and is an allelic...

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PMID: 38424183
DOI: 10.1038/s10038-024-01229-6
PMCID: PMC11126378

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