Skeletal dysplasia
Gene: MMP9
Metaphyseal dysplasia gp of SD - at least 3 cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metaphyseal anadysplasia 2 613073
Publications
Comment on list classification: Changing rating from red to amber as two cases have been reported with variants in this gene.Created: 17 Jul 2019, 12:42 p.m. | Last Modified: 17 Jul 2019, 12:42 p.m.
Panel Version: 1.181
Associated with Metaphyseal anadysplasia 2 (613073) in OMIM
PMID: 19615667 - Lausch et al 2009 - 1 family. In a recessive kindred, family E, MMP13 was normal, but a c.21T>A transversion in exon 1 altered the start codon of MMP9, substituting methionine with lysine. The variant segregated with the disease in the family.
PMID: 28342220 - Sharony et al 2017 - 1 family. Two affected sib fetuses with early sonographic evidence of long bone shortening and postnatally no metaphyseal changes. Whole-exome sequencing revealed homozygous mutation in MMP9 in both fetuses. NM_004994: c.[559C>T], p.(L187F).
PMID: 24781753 - Li et al 2015 - 0 families. 2 brothers with short stature and mixed epiphyseal and metaphyseal dysplasia. Identified a homozygous C>T transition mutation in exon 2 of MMP13 (c.325C>T, p.(R109*). So not in MMP9.
Summary: only 2 cases reported, 3rd had variant in MMP13 not MMP9.
Mouse model - PMID: 9590175 - Vu et al. 1998 - report that homozygous mice with a null mutation in the MMP-9/gelatinase B gene exhibit an abnormal pattern of skeletal growth plate vascularization and ossification.Created: 8 May 2019, 2:44 p.m. | Last Modified: 31 Jul 2019, 12:38 p.m.
Panel Version: 1.192
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: MMP9; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Only one variant identified in this phenotypeCreated: 12 Jul 2016, 10:04 a.m.
Comment on list classification: Only one variant identified in this phenotypeCreated: 11 Jul 2016, 8:29 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:58 p.m.
Tier 1Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
Unknown
Phenotypes
Metaphyseal anadysplasia 2 613073
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: MMP9 were set to 28342220; 24781753; 19615667
Gene: mmp9 has been classified as Amber List (Moderate Evidence).
Added phenotypes Metaphyseal anadysplasia 2 613073 for gene: MMP9 Publications for gene MMP9 were changed from to 28342220; 24781753; 19615667
Source NHS GMS was added to MMP9.
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for MMP9 were set to Metaphyseal anadysplasia 2 613073
MMP9 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for MMP9 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for MMP9 was changed to Unknown
Phenotypes for MMP9 were set to Metaphyseal anadysplasia 2 613073
This gene has been classified as Green List (High Evidence).
MMP9 was added to Unexplained skeletal dysplasiapanel. Sources:
MMP9 was created by sleigh