Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study

Edwards, Nicola C.; Moody, William E.; Yuan, Mengshi; Warfield, Adrian T.; Cramb, Robert; Paisey, Richard B.; Geberhiwot, Tarekegn; Steeds, Richard P.

doi:10.1186/s13023-015-0292-z

Orphanet Journal of Rare Diseases

Table 1 Individual patient demographic profile

From: Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study

Patient	Age	Gender	Ethnicity	BMI	ALMS	Protein	ALMS	Protein	Infantile CM
Patient	Age	Gender	Ethnicity	BMI	mutation	change	mutation	change	Infantile CM
1	21	Male	White British	32.6	c.6526C > T	p.Gln2176X	c.11101C > T	p.Arg3701X	Yes
2	19	Male	White British	27.1	c.6526C > T	p.Gln2176X	c.11101C > T	p.Arg3701X	No
3	18	Male	White British	32.3	c.8932C > T	p.GLN2978X	c.5356A > G	p.ASN1786Asp	Yes
4	17	Male	White British	26.4	c.10769delC	p.Thr3590LysfsX6	c.5356A > G	p.Asn1786Asp	Yes
5	20	Male	White British	31.5	c6526C > T	p.Gln217X	c11101C > T	pArg3701X	No
6	49	Male	White British	31.9	c.10483C > T	p.Gln3495X	c.10775delC	P.Threo3592LysfsX6	No
7	40	Male	White British	38.4	c.1729delA	p.Arg577Glyfsx17	c.10477C > T	p.Gln3493X	No
8	25	Female	Mixed race	30.0	c.2218dupA	p.ThreoAsnfsX2	c.1069C > T	p.Arg3657X	No
9	45	Male	White British	35.3	c.1874A > G	p.His623Arg			No
10#	44	Male	White British	28.2	c.10769delC	p.Thr3590LysfsX6	c.11410C > T	p.Arg38404X	Yes
11	21	Female	White British	26.4	c6584delA	p.Lys2195SerfX10	C1008_1009delT	pCys336fsX1	Yes
12	22	Female	White British	27.6	c.6823C > T	p.Arg2275X	c.9535C > T	P.Arg3179X	No
13	26	Male	White British	22.7	c.6823C > T	p.Arg2275X	c.9535C > T	P.Arg3179X	No
14	29	Male	White British	31.6	c.6895delG	p.val2299TrpsX43	c.11443C > T	p.Gln3815X	No
15	43	Male	White British	35.2	c.8995C > T	p.Gln3493X	c>9001C > T	Gln3001	No
16	29	Female	White British	27.0	c.8002C > T	p.arg2668X	c.10879C > T	pArg3627x	No
17	18	Male	BritishPakistani	27.8	c.4937C > A	p.Ser1646X			No
18	20	Male	BritishPakistani	36.6	c.7544-200_767 + 1110del				No
19	19	Male	BritishPakistani	26.8	c.7544-200_767 + 1110del				Yes
20	21	Female	BritishPakistani	29.6	c.5075delC	p.Pro1692LeufsX39	c.5075delC	p.Pro1692LeufsX39	Yes
21	24	Female	White British	26.5	Result awaited*	-	-	-	No
22	20	Male	BritishPakistani	25.9	c.4937C > A	p.Ser2646STOP			Yes
23	19	Female	British Indian	19.4	c.2041C > T	p.Arg681X	c.2041C > T	p.Arg681X	Yes
24	23	Male	British Indian	28.9	c.2041C > T	p.Arg681X	c.2041C > T	p.Arg681X	No
25	32	Female	White British	25.7	C11101C > T	p.R3701X			No
26	20	Female	White Australian	37.7	c.7911dupC	p.Asn2638Glnfs24			No

#End-stage kidney disease on dialysis
*Genetic data pending at time of publication. Patient fulfills the clinical diagnostic criteria for ALMS on serial assessment

Back to article page

ISSN: 1750-1172

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com