Evidence map›Paper›PMID 41042407›Full record

ArticleMolecular biology reports2025

Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.

Moein Kohkalani, Seyyed Amin Seyyed Rezaei, Maryam Naghinejad, Elaheh Hassani, Sima Mansoori Derakhshan, Mahmoud Shekari Khaniani

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Article in Molecular biology reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2 citing papers in PubMed.

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5 · Who and what money

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6 authors.

Moein KohkalaniDepartment of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Seyyed Amin Seyyed RezaeiDepartment of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Maryam NaghinejadDepartment of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Elaheh HassaniDepartment of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Sima Mansoori DerakhshanDepartment of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Mahmoud Shekari KhanianiDepartment of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. Shekarima@tbzmed.ac.ir.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSHOX gene haploinsufficiency is a frequent cause of idiopathic short stature (ISS), while complete deficiency of this gene product causes the severe Langer mesomelic dysplasia (LMD). Mutations in the SHOX gene are among the well-known genetic factors responsible for short stature. This study investigated the genetic cause of LMD and ISS in two and five individuals in one family.

methodsExome sequencing was conducted in the proband. Candidate variant was evaluated in silico for their impact. Sanger sequencing was employed for variant segregation analysis among available family members.

resultsA novel SHOX gene splice donor variant (c.486 + 2T > C) was found in homozygous form in individuals with LMD, and in heterozygous form in individuals with ISS. The mutation is likely to disrupt normal splicing as it affects a nearly invariantly conserved nucleotide at a canonical splice location. The variant was absent from gnomAD. The mutation segregated perfectly with ISS, LMD, and normal stature in this family.

conclusionThis study describes a new SHOX splice-site variant causing LMD and ISS, and demonstrates a strong genotype-phenotype correlation.

Indexed as

DwarfismGrowth DisordersHomeodomain ProteinsOsteochondrodysplasiasShort Stature Homeobox ProteinAdolescentAdultChildExome SequencingFemaleGenetic Association StudiesGenotypeHaploinsufficiencyHumansMaleMutationHomeodomain ProteinsRNA Splice SitesShort Stature Homeobox ProteinSHOX protein, humanGenotype-Phenotype correlationIdiopathic short statureIranLanger mesomelic dysplasiaNovel mutationSHOX gene

Identifiers

PMID41042407

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