Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Table 1 Clinical features of 66 probands in which RYR1 mutation analysis was performed

Family number	Phenotype	Ethnicity	Consang.
MPS001	LMPS	White	Y
MPS002	LMPS	South Asian	Y
MPS003	LMPS	Middle Eastern	Y
MPS004	LMPS	South Asian	Y
MPS005	LMPS	South Asian	Y
MPS006	LMPS	South Asian	Y
MPS007	LMPS	Not available	N
MPS008	LMPS	White	N
MPS009	LMPS	White	N
MPS010	FADS	Middle Eastern	Y
MPS011	LMPS	Not recorded	Y
MPS012	LMPS	North African	Y
MPS013	LMPS	White	N
MPS014	LMPS	South Asian	Y
MPS015	LMPS	White	N
MPS016	LMPS	Not available	Y
MPS017	LMPS	North African	Y
MPS018	FADS	White	N
MPS019	LMPS	White	N
MPS020	LMPS	White	N
MPS021	LMPS	South Asian	Y
MPS022	FADS	Middle Eastern	Y
MPS023	LMPS	Middle Eastern	Y
MPS024	LMPS	White	N
MPS025	FADS	Mixed race	N
MPS026	FADS	White	N
MPS027	LMPS	Not available	Y
MPS028	LMPS	Not available	N
MPS029	FADS/LMPS	Not available	N
MPS030	FADS/LMPS	Not available	N
MPS031	LMPS	White	N
MPS032	LMPS	White	N
MPS033	LMPS	White	N
MPS034	EVMPS	Not available	Y
MPS035	EVMPS	South Asian	Y
MPS036	EVMPS	White	N
MPS037	EVMPS	Not available	N
MPS038	EVMPS	White	N
MPS039	EVMPS	White	N
MPS040	EVMPS	White	N
MPS041	EVMPS	White	N
MPS042	EVMPS	White	N
MPS043	EVMPS	South Asian	N
MPS044	EVMPS	South American	N
MPS045	EVMPS	South Asian	Y
MPS046	EVMPS	South Asian	Y
MPS047	EVMPS	White	N
MPS048	EVMPS	African	Y
MPS049	EVMPS	Not available	N
MPS050	EVMPS	White	N
MPS051	EVMPS	White	N
MPS052	EVMPS	White	N
MPS053	EVMPS	White	Y
MPS054	EVMPS	White	N
MPS055	EVMPS	White	N
MPS056	EVMPS	White	N
MPS057	EVMPS	South American	N
MPS058	EVMPS	White	N
MPS059	EVMPS	African	N
MPS060	EVMPS	White	N
MPS061	EVMPS	White	N
MPS062	EVMPS	White	N
MPS063	EVMPS	White	N
MPS064	LMPS	Middle Eastern	?
MPS065	LMPS	White	N
MPS066	LMPS	North African	Y

Clinical phenotype (FADS = Foetal Akinesia Deformation Sequence, LMPS = Lethal Multiple Pterygium Syndrome; EVMPS = Escobar Variant Multiple Pterygium Syndrome), ethnic origin and presence of parental consanguinity is recorded).

ISSN: 2051-5960