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Table 2 Previously reported MMP13 pathogenic variants and the new variant we report here: inheritance, exon, amino acid change and clinical features

From: Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case

Description

Gene

Inheritance

Exon

Mutation

Amino acid change

Disease

Bowed leg/

Wadling gait

Stature range (SD)

Articular pain

Diaz Escagedo et al. (this report)

MMP13

AD

2

missense

p.Gln72His

MAD 1

Yes/Yes

-1.7 to -2.6

No

Song et al., 2019

MMP13

AD

2

missense

p.Met71Thr

MAD 1

ND/Yes

No

No

Lausch et al., 2009

MMP13

AD

2

missense

p.Phe74Ser

MAD 1

Severe/ND

-1.72 to -2.58

No

Lausch et al., 2009

MMP13

AD

2

missense

p.Met91Thr

MAD 1

Yes/ND

+ā€‰1.6 to -2.89

No

Kennedy et al., 2005

MMP13

AD

2

missense

p.Phe75Ser

MAD 1a

Yes/ND

ND

No

Li et al., 2015

MMP13

AR

2

nonsense

p.Arg109Ter

MAD 2

Yes/Yes

-1.9 to -2.6

No

Lausch et al., 2009

MMP13

AR

4

missense

p.His232Asn

MAD 2

Yes/Yes

-0.23 to -1

Yes

BonafƩ et al., 2014/Tadros et al., 2017

MMP13

AR

5

missense

p.Trp207Gly

MDST

Yes/ND

-1.31 to -3.85

Yes

  1. ADĀ Autosomal Dominant, ARĀ Autosomal Recessive, MADĀ 1Ā Metaphyseal Anadysplasia type 1, MADĀ 2ā€‰ Metaphyseal Anadysplasia type 2, MDSTĀ Metaphyseal dysplasia, Spahr type, NDĀ not described
  2. aas describe in the text, MAD 1 and SEMD MOā€‰=ā€‰spondyloepimetaphyseal dysplasia, Missouri type are classified as the same disease. Bonafe, Cormier-Daire [18]