两个无血缘关系家庭中与产前发病相关的骨骼发育异常：致死性的诊断与预测

Prenatal-onset -related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.

作者信息

Abumansour Iman Sabri, Iskandarani Radiah Mahmoud, Edrees Alaa, Javed Farrukh, Taher Fadwah, Hakeem Ghaidaa Farouk

机构信息

Neurogenetic Section Department of Pediatrics King Faisal Specialist Hospital and Research Center Jeddah Saudi Arabia.

Department of Medical Genetics Faculty of Medicine Umm Al-Qura University Makkah Saudi Arabia.

出版信息

Clin Case Rep. 2021 May 28;9(5):e04079. doi: 10.1002/ccr3.4079. eCollection 2021 May.

DOI:10.1002/ccr3.4079

PMID:34094554

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8162397/

Abstract

This report describes two patients with INPPL1- related skeletal dysplasia diagnosed prenatally. A literature review is conducted to find out if high-lethality is associated with particular pathogenic variants in INPPL1 gene. Prediction of lethality in the prenatal setting has an impact on perinatal management. Some frameshift variants in INPLL1 gene are uniquely observed in lethal cases; however, more patients are needed to confirm the correlation.

摘要

本报告描述了两名产前诊断为与INPPL1相关的骨骼发育不良的患者。进行了文献综述，以确定高致死率是否与INPPL1基因中的特定致病变异相关。产前环境中致死率的预测对围产期管理有影响。INPLL1基因中的一些移码变异仅在致死病例中观察到；然而，需要更多患者来证实这种相关性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2076/8162397/682630c66991/CCR3-9-e04079-g003.jpg

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Adv Biol Regul. 2020 May;76:100651. doi: 10.1016/j.jbior.2019.100651. Epub 2019 Sep 5.

Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.

Hum Mutat. 2017 Dec;38(12):1731-1739. doi: 10.1002/humu.23321. Epub 2017 Sep 21.

INPPL1 gene mutations in opsismodysplasia.

J Hum Genet. 2017 Feb;62(2):135-140. doi: 10.1038/jhg.2016.119. Epub 2016 Oct 6.

Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia.

Clin Dysmorphol. 2016 Oct;25(4):152-5. doi: 10.1097/MCD.0000000000000136.

Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy.

Front Pediatr. 2015 Jun 22;3:48. doi: 10.3389/fped.2015.00048. eCollection 2015.

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

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Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Am J Med Genet A. 2014 Sep;164A(9):2407-11. doi: 10.1002/ajmg.a.36640. Epub 2014 Jun 20.

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Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011. Epub 2012 Dec 27.

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两个无血缘关系家庭中与产前发病相关的骨骼发育异常：致死性的诊断与预测

Prenatal-onset -related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.

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两个无血缘关系家庭中与产前发病相关的骨骼发育异常：致死性的诊断与预测

Prenatal-onset -related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.

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