Skeletal dysplasia

Gene: SERPINH1

I don't know

OI - at least 2 families reported plus Dachshund nature model also with OI. ? Green - ; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OI3; {Preterm premature rupture of the membranes, susceptibility to}, 610504; Osteogenesis imperfecta, type X, 613848; Osteogenesis Imperfecta, Recessive; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias

Publications

• 20188343
• 25510505

I don't know

PMID: 20188343 - Christiansen et al 2010 - one individual with OI - identified an autosomal-recessive mutation in SERPINH1 (c.233T>C, p.Leu78Pro).

PMID: 25510505 - Duran et al 2015 - two affected siblings with a moderately severe form of OI. Homozygosity for a single nucleotide variant in SERPINH1 (c.710T>C, p.237Met>Thr) was identified. The parents were carriers of the sequence change.

Also Dachshund (dog) model of OI:
PMID: 19629171 - Drögemüller et al 2009 - investigated Dachshunds with an autosomal recessive form of OI. A missense mutation (c.977C>T, p.L326P) located in an evolutionary conserved domain was perfectly associated with the OI phenotype. 11 affected dogs were homozygous C/C and all 13 known carriers were heterozygous C/T. Affected dogs iikely bred from a founder individual.

Created: 7 May 2019, 10:46 p.m.

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: SERPINH1; Initial rating suggestion: I don't know

Created: 6 Mar 2019, 11:37 a.m.

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs

Created: 27 Jul 2016, 9:51 a.m.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Osteogenesis imperfecta, type X 613848; {Preterm premature rupture of the membranes, susceptibility to} 610504

Variants in this GENE are reported as part of current diagnostic practice