A Germline or De Novo Mutation in Two Families with Gaucher Disease: Implications for Recessive Disorders

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2012 Jun 21

PMID 22713811

Citations 9

Authors

Hamid Saranjam

Sameer S Chopra

Harvey Levy

Barbara K Stubblefield

Emerson Maniwang

Ian J Cohen

Hagit Baris

Ellen Sidransky

Nahid Tayebi

Affiliations

Soon will be listed here.

Abstract

Gaucher disease (GD) is an autosomal recessive storage disorder that most commonly results from the inheritance of one identifiable mutant glucocerebrosidase (GBA1) allele from each parent. Here, we report two cases of type 2 GD resulting from the inheritance of one identifiable paternal mutant allele and one allele that likely resulted from a maternal germline mutation. Germline mutations or mosiacism are not generally associated with autosomal recessive disorders. The probands from the two unrelated families had the same maternal mutation, leu444pro, that we propose resulted from a de novo maternal germline mutation occurring at this known 'hotspot' for mutation. This first report of a germline mutation for a common point mutation leu444pro (c.1448 T>C;p.leu483pro) in GD has significant implications for molecular diagnostics and genetic counseling in recessive disorders.

Citing Articles

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The natural history of type 2 Gaucher disease in the 21st century: A retrospective study.

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Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

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Cervera-Gaviria M, Alcantara-Ortigoza M, Gonzalez-Del Angel A, Moyers-Perez P, Legorreta-Ramirez B, Barrera-Carmona N BMC Neurol. 2016; 16(1):147.

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